Patient Presentation
A pediatrician was talking with her brother who said, “Do you mind if I ask you a medical question?” Slightly hesitantly she said “okay.” He went on, “I have someone I work with closely and his 3-year old boy started having some medical problems, and then recently he had a seizure and was admitted to the children’s hospital. I don’t know a lot more than that but they diagnosed him with something called Tay-Sachs disease. I looked it up and it looks pretty scary to me. I just wondered if you know anything about it? I’m not trying to be nosy. He’s a great guy to work with, and, I guess I just want to understand better.” “I know you and you’re not that type. You’re a listener not a blabber. You want to know so you can listen better to him, right?” she asked. “Yeah, I just think if I understand it better then maybe he wouldn’t have to explain everything if he wants to talk,” said the brother. “Well Tay-Sachs is not something I usually take care of. It’s a problem where there is an enzyme that doesn’t break down the chemicals in the cells right. Those buildup in cells and in the organs, especially the brain and the build up can cause problems. That is probably the reason the boy had a seizure. I know there are different types depending on when the symptoms show up. What they really teach us in medical school is the classic type that affects babies in the first year of life. They have short life spans. Since the little boy is older than that, it’s likely a little different than the baby type, but I would have to look it up and see more exactly what the life span is and any specifics about it. I just remember that all the patients have neurological problems and shortened life spans but obviously that varies alot depending on the person. They also have a specific eye finding which used to help make the diagnosis especially before we had other testing.” Does that sort of help?” she asked. “Yeah, that is sort of what I read, but hearing you say it helps me,” he replied. “I’m very sorry for your friend. It’s a hard diagnosis. I’d also say that the children’s hospital personnel should be able to help him and his family. I’m not sure I can be of any direct help, but if you need some more information I can try to help you understand,” she answered.

Discussion
Tay-Sachs Disease (TSD) is one of many lysosomal storage disorders (LSD). LSD are a group of heterogeneous, monogenetic disorders in which there is disruption of the normal biochemical processes within the cellular lysosome. Toxic waste accumulates within the lysosome which causes “…irreparable cellular damage and organ dysfunction followed by premature death.” Most patients present in infancy or childhood with progressive neurological symptoms. There are some enzyme replacement therapies for some diseases [Gaucher Disease was the first and more information about Gaucher can be found here], but the blood-brain barrier is a significant hurdle for central nervous system-targeted treatment. Some other LSDs may also be treated with stem-cell transplantation.
Each LSD is rare but in combination they have an incidence rate of ~ 1:7-8000 live births. Most are autosomal recessive but some are X-linked (e.g. Mucopolysaccharidoses Type II). Newborn screening tests for many LSDs and also prenatal counseling and specific disease testing may be offered to persons with a high-risk of specific LSDs. Some of the more common LSDs include Batten, Fabry, Gaucher, Krabbe, Niemann-Pick, Pompe, Metachromatic Leukodystrophy, Mucopolysaccharidoses, Sandoff, Tay-Sachs and Wolman.

Learning Point
Tay-Sachs Disease is considered a HEXA disorder because the enzyme hexosaminidase A is used to degrade GM2 ganglioside. Without this enzyme, GM2 ganglioside builds up especially in brain and nerve tissues. It is autosomal recessive and there is a higher risk for the genetics within certain Jewish, Cajun and French Canadian populations. Treatment is supportive, along with genetic counseling.
TSD has 3 subtypes:

Subtype	Acute Infantile	Subacute Juvenile	Late Onset
Age of Symptom Onset	3-6 months	2-5 years	Teens – adulthood
Major Neurological Symptoms	Progressive weakness and motor skill loss, myoclonic jerks	Normal development, then plateauing, then developmental skill loss	Progressive antigravity muscle weakness especially of lower extremities
Other Neurological Symptoms	Cherry-red spots on macula, exaggerated startle response, decrease attentiveness and unusual eye movements, hypotonia, hyperreflexia and sustained ankle clonus	Retinal pigmentation can be seen later in disease, increased muscle spasticity and decrease ambulation, speech declines from dysarthria and drooling to absent speech	Frequent falls, incoordination, dysarthria, tremor
Seizures	Approximately 12 month age onset	Onset during this time period	Psychiatric problems, memory and executive function problems are more common
Neuroimaging	Progressive macrocephaly and ventricular enlargement	Progressive global brain atrophy	Isolate cerebral atrophy
Progression and Life Span	Relatively rapid deterioration with lifespan being age 2-3 years in general, sometimes supportive cares prolong to 5-7 years	Slower deterioration but lifespan is to age 10-15 years	There is a broad clinical variation

ClinicalTrials.gov is one clearinghouse for patients and families who may be looking to participate in all types of research studies including Tay-Sachs disease.
Questions for Further Discussion
1. What has been your experience with taking care of and supporting families with rare diseases?
2. What online resources are available with quality information about rare diseases?
3. How do you handle family and friends who ask you for medical information or advice?
Related Cases

Disease: Tay-Sachs Disease

Symptom/Presentation: Genetic Disorder | Seizures

Specialty: Developmental Disabilities | Genetics | Neurology / Neurosurgery

Age: Preschooler

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Tay-Sachs Disease and Lipid Metabolism Disorders.

To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
To view videos related to this topic check YouTube Videos.

Toro C, Shirvan L, Tifft, C. HEXA Disorders. 1999 March 11, In Adam, MP, Feldman J, Mirzaa GM, et al., [Updated 202, Oct 1] editors GeneReviews. Seatlle (WA); University of Washington, Seattle, 1993-2025.Verma J, C. Thomas D, Sharma S, et al. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders. Prenatal Diagnosis. 2015;35(11):1137-1147. doi:10.1002/pd.4663Jauhari P, Goswami JN, Sankhyan N, Singh P, Singhi P. Unusual Neuroimaging Finding in Infantile Tay-Sach’s Disease. Indian J Pediatr. 2018;85(2):158-159. doi:10.1007/s12098-017-2429-7Anderson S. Newborn Screening for Lysosomal Storage Disorders. Journal of Pediatric Health Care. 2018;32(3):285-294. doi:10.1016/j.pedhc.2017.04.016Ellison S, Parker H, Bigger B. Advances in therapies for neurological lysosomal storage disorders. Journal of Inherited Metabolic Disease. 2023;46(5):874-905. doi:10.1002/jimd.12615La Cognata V, Guarnaccia M, Polizzi A, Ruggieri M, Cavallaro S. Highlights on Genomics Applications for Lysosomal Storage Diseases. Cells. 2020;9(8):1902. doi:10.3390/cells9081902Mistry PK, Kishnani P, Wanner C, et al. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet J Rare Dis. 2022;17:362. doi:10.1186/s13023-022-02517-0

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Patient Presentation
A 2-year-old male came to clinic for his health supervision visit. The parents and resident physician seeing the infant were worried about some webbing between his 3rd and 4th toes on his left foot. There were no other webbed digits and the patient seemed unbothered by the webbing.

The past medical history showed an uncomplicated prenatal and natal history. The webbing was not noted during his newborn hospitalization. The family history was negative for any congenital abnormalities or orthopaedic problems that the family was aware of.

The pertinent physical exam revealed a well-appearing male with growth parameters around the 50%. His left foot had minor webbing (estimated about 5 mm more than other digits) between the 3rd and 4th toes with spontaneous movement of each of the toes on the foot. The interdigital skin did not appear to have any hard spots when palpated, and had no inconsistencies when transilluminated in the office. The rest of his digits and examination were normal.

The diagnosis of of a simple syndactyly was made. The staff physician counseled the family regarding the problem and the family wanted to continue to monitor it. The patient’s clinical course over time showed no functional problems and he was walking unimpeded at his 12 month visit.

Discussion
Syndactyly is a very common congenital limb disorder. It derives from Greek from syn meaning together and dactylos meaning digit. It has an estimated incident of one in 2000 to 3000 life births, and represents approximately 20% of all hand malformations. Males are more affected than females, and it is more common in the Caucasian population. “The malformation is heterogeneous with unilateral, bilateral, symmetric, and asymmetric variants.” It is often found in isolation but can be syndromic with Apert’s and Poland syndrome being classic examples. Upper extremities are more commonly affected than lower extremities.

The hand digital web spaces most commonly affected in decreasing frequently are the third, fourth, second, and first.

Learning Point
Syndactyly is classified as simple if only the soft tissues are involved. Simple syndactyly is further characterized as incomplete if the soft tissue separation is proximal to the distal phalanx and complete if the soft tissue fusion continues all the way to the distal phalanx. (This makes sense as the embryological formation of the web space starts distally and migrates proximally). Syndactyly is considered complex if the adjacent bones are fused creating a synostosis. Complex syndactyly has abnormal positions of the bones and soft tissues which may include synostoses and webbing. Complex syndactyly is more common with congenital syndromes.

Syndactyly is usually noted at birth and the location and especially the extent of the webbing should be noted. If there is minor webbing (quite proximal) which does not appear to affect the digit function and it is obvious that there is no bony involvement, then patients are usually monitored but may be referred to surgery based on parent and provider preference. If the webbing is more extensive, appears to be affecting function or it is unclear if there is bony involvement then plain radiographs can help with evaluation and patients are often referred for surgical intervention.

Surgical treatment is reconstructive with the goal of allowing independent functioning of each digit. Syndactyly that requires surgical treatment is usually started between 12 and 18 months of age, which allows the hand to grow and to have fewer complications. Simple syndactyly surgical procedures may seem straightforward, but issues such as the changing configuration of the fingers along their length, and even that there is up to 30% less skin available on fused fingers makes the procedure more challenging.

Questions for Further Discussion
1. What are common foot problems? A review can be found here
2. How should shoes be properly fitted? A review can be found here
3. What is the difference between a malformation and deformation? A review can be found here

Related Cases

Disease: Syndactyly | Foot Injuries and Disorders | Hand Injuries and Disorders

Symptom/Presentation: Minor Congenital Anomaly

Specialty: Genetics | Orthopaedic Surgery and Sports Medicine | Surgery

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Foot Injuries and Disorders and Hand Injuries and Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Tonkin MA. Failure of Differentiation Part I: Syndactyly. Hand Clinics. 2009;25(2):171-193. doi:10.1016/j.hcl.2008.12.004

Kvernmo HD, Haugstvedt JR. Treatment of congenital syndactyly of the fingers. Tidsskr Nor Laegeforen. 2013;133(15):1591-1595. doi:10.4045/tidsskr.13.0147

Chouairi F, Mercier MR, Persing JS, Gabrick KS, Clune J, Alperovich M. National Patterns in Surgical Management of Syndactyly: A Review of 956 Cases. Hand (NY). 2020;15(5):666-673. doi:10.1177/1558944719828003

McGarry K, Martin S, McBride M, Beswick W, Lewis H. The Operative Incidence of Syndactyly in Northern Ireland. A 10-Year Review. Ulster Med J. 2021;90(1):3-6.

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Patient Presentation
A 17-year-old female was hospitalized with a few week history of fatigue, weight loss and general malaise. She developed increasing cough and difficulty breathing that brought her to the local emergency room and a chest radiograph was markedly abnormal with cavitary lesions.

The past medical history was negative. The family history was positive for diabetes, thyroid disease and arthritis. She had no significant travel or recreational history and had not been exposed to any birds or any other non-domestic animals. She denied intentional weight loss or increased exercise.

The review of systems was negative for any gastrointestinal, dermatological or eye problems. She denied any syncope, mental status changes, hemoptysis or changes in her bowels or bladder. She denied any specific problems with her joints or muscles but said she just “felt weak,” and didn’t feel like moving much.

The pertinent physical exam showed an ill-appearing teenager with heart rate of 92 beats/min, respiratory rate of 32/minute, with normal blood pressure and temperature. She was 163 cm (50%) and weight was 65.2 kg (75%) which was down from 68.4 kg a few weeks previously. HEENT was positive for increased tearing but there was no obvious erythema of the eye structures. She had no skin changes including changes to any mucous membranes. She had no obvious nail clubbing nor significant lymphadenopathy. Her cardiac examination was normal as was her abdomen. Her lung examination had decreased breath sounds throughout but no specific wheezing or rales.

The diagnosis of cavitary pulmonary disease was made. The initial differential diagnosis focused on infections (especially tuberculosis, fungal or abscess), congenital lesions and much less likely pulmonary infarction or oncological disease. The work-up was extensive and eventually a diagnosis of granulomatosis with polyangiitis was made based on abnormal chest radiograph, abnormal urinalysis and eventually kidney biopsy and elevated anti-neutrophil cytoplasmic antibodies. She was treated with cyclophosphamide and corticosteroids.

Figure 145 – Chest radiograph AP and lateral (above) show bilateral thick walled cavitary nodules in the lungs. Axial CT with contrast of the chest (below) shows just how thick walled the cavitary nodules are in the left lung. Multiple smaller non-cavitary nodules are seen scattered throughout both lungs.

Discussion
“Granulomatosis with polyangiitis (GPA), previously referred to as Wegner’s granulomatosis, is a necrotizing vasculitis that affects small and medium-sized blood vessels. It is a systemic disease that results in inflammatory, non-caseating granulomatous lesions that may develop in any organ, but are most commonly in the respiratory tract and kidney. GPA is associated with elevated anti-neutrophil cytoplasmic antibodies (ANCA), similar to microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis.” The role of ANCA in the disease process is being elucidated. Other ANCA-associated vasculitides including microscopic polyangiitis and eosinohilic granulomatosis with polyangiitis (previously known as Churg-Strauss syndrome).

Most patients with GPA are middle age, and pediatric cases are rare and mainly in the adolescent age range. Diagnosis is made by three of six criteria: “…abnormal urinalysis (hematuria and/or significant proteinuria); granulomatous inflammation on biopsy; nasal sinus inflammation; subglottic, tracheal, or endobronchial stenosis; abnormal chest X-ray; or CT, PR3 ANCA or C-ANCA staining.” ANCA if positive can be helpful but in up to 40% of pediatric patients it may be negative especially if there is localized disease. If needed, biopsy can be performed and the kidney is the preferred site.

There are two disease forms, localized and systemic. Localized disease is in the upper airway (especially the subglottic area (up to ~48% in the pediatric age group and is the most common area affected)) but other areas such as the distal trachea and bronchi can be affected. Systemic disease tends to involve the respiratory and renal systems. Renal disease can progress to renal failure and death. Cardiac, gastrointestinal and neurological systems are involved only very rarely. Localized disease tends to relapse whereas systemic disease is less likely to do so. A variety of immunomodulators, chemotherapeutic agents and steroids are used to treat the disease.

Learning Point
Signs and symptoms of GPA include:

• Systemic
  • Fatigue
  • Fever
  • Arthralgia
  • Myalgia
  • Weight loss
• Dermatological
  • Gangrene
  • Purpura
  • Ulcers
• Pulmonary – affects 50% of patients
  • Cough
  • Dyspnea
  • Wheezing
  • Hemoptysis
  • Stridor
  • Nasoseptal perforation
  • Mass
• Renal
  • Necrotizing glomerulonephritis
  • Hematuria
  • Proteinuria
• Ophthalmological
  • Corneal ulcers
  • Episcleritis
  • Scleritis
  • Masses, granulomatous
  • Retinal thrombosis or vasculitis
  • Visual acuity changes

Questions for Further Discussion
1. What causes cavitary pulmonary lesions?
2. What causes hemoptysis? A review can be found here
3. What causes respiratory failure? A review can be found here
4. What are therapy options for renal replacement? A review can be found here

Related Cases

Disease: Granulomatosis with Polyangiitis | Wegener’s Granulomatosis

Symptom/Presentation: Fatigue | Weight Loss | Respiratory Distress

Specialty: Immunology | Allergy / Pulmonary Diseases

Age: Teenager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Granulomatosis with Polyangiitis and Vasculitis

.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Filocamo G, Torreggiani S, Agostoni C, Esposito S. Lung involvement in childhood onset granulomatosis with polyangiitis. Pediatr Rheumatol Online J. 2017;15:28. doi:10.1186/s12969-017-0150-8

Lee PY, Adil EA, Irace AL, et al. The presentation and management of granulomatosis with polyangiitis (Wegener’s Granulomatosis) in the pediatric airway. The Laryngoscope. 2017;127(1):233-240. doi:10.1002/lary.26013

Calabrese V, Gallizzi R, Spagnolo A, et al. Granulomatosis with Polyangiitis: A Focus on Differences and Similarities Between Child and Adult Patients. Medicina (Kaunas). 2025;61(3):534. doi:10.3390/medicina61030534

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Patient Presentation
A 15-month-old female came to clinic for her health supervision visit. Her family had immigrated to the US when she was 6 months old from a low-income South-East Asian country. Her mother was worried that she “had a vitamin or mineral deficiency” because the American doctors hadn’t prescribed vitamins and now she had had 3 viral infections since she had started childcare about 3 months ago. She said that the doctors in her home country usually give vitamins to the children. Her mother also thought she looked “small and pale.”

The past medical history showed an uneventful pregnancy where the mother had routine prenatal care and “took her vitamins.” The child had been breast fed until 1 month of age and then was transitioned to formula. At one year of age she was transitioned to whole milk and her diet history showed her eating a variety of age- and culture-appropriate foods. She was not described as a picky eater. Her chart showed a normal hemoglobin and lead testing at 12 months of age. She had had one ear infection as well before 1 year of age. She had no failure to thrive, emesis/diarrhea, or unusual infections.

The pertinent physical exam revealed a smiling child with normal vital signs and weight and length at the 25-50% for age. HEENT showed normal complexion without pale conjunctiva. She also had some mild rhinorrhea and her ears had a small amount of clear fluid at the bases bilaterally. The rest of her examination was normal.

The diagnosis of a healthy appearing female with what appeared to be serial viral infections due to exposure at childcare. The diet and medical history were uneventful for significant dietary deficiencies and she appeared to be eating a good toddler diet for her age. The pediatrician discussed viral infection exposure due to childcare. Despite discussing the unlikelyhood of a significant dietary deficiency the mother wanted more laboratory testing and a prescription for vitamins. The pediatrician politely refused the testing but noted that if the mother was very insistent, that using a general liquid multivitamin likely would not hurt the child. He also noted that it likely would not change the number of viral infections the child had too.

Discussion
Nutrients are needed to sustain biological life. Macronutrients are those needed “…in large amounts to provide energy, produce hormones, synthesize molecules and regulate metabolic pathways. They include protein, carbohydrates and lipids. Micronutrients are needed in trace amounts for biochemical processes such as gene transcription, enzymatic reactions and protection against oxidative stress. Vitamins and minerals are the two main classes of micronutrients. Both are essential as they cannot be synthesized and must be obtained from the diet.

Vitamins are organic compounds and are further classified as fat or water soluble which affects their storage. Fat soluble are Vitamins A, D, E, and K. Stored in fat they are available to the body longer. Water soluble vitamins are the B vitamins (1,2,3,5,6,7,9,12) and Vitamin C. They are washed out with water and therefore not available to the body for a long time.

Inadequate nutrition continues to be a world-wide problem. Multiple micronutrient deficiencies in an energy-replete diet is referred to as the hidden hunger. Hidden hunger is one of the three components of the triple burden of malnutrition. The triple burden of malnutrition is when within a single or community population there are individuals with overnutrition (obesity), undernutrition (underweight, starvation) and micronutrient deficiencies. Limited micronutrient intake can often occur because of consuming energy-dense but nutrient poor diets. These are often “…where there is reliance on low-cost staples and where the diet is monotonous, and choices are limited by poverty.” For example, low-cost, energy-dense foods would be items such as potatoes, rice and wheat. Ways to improve micronutrient intake include fortification (the micronutrient is added to the food such as iron and/or B vitamins added to flour, or iodine added to table salt), supplementation (giving the micronutrient separate from the food, in a pill or similar forms such as a general multivitamin), biofortification (where the food is bioengineered or grown in an environment where the plant is able to increase the content of the micronutrient), and diet diversification (an increased range of different foods is consumed). Diet diversification is one of the easiest and best ways to ensure that all macro- and micronutrients are consumed, but can be limited because of poverty, food access, health literacy, etc.

Learning Point
Minerals are inorganic micronutrients. They are important in “…enzymes structure or catalytic properties and participate in cellular energy transduction second-messenger pathways, and acid-base balance.”
The most common micronutrients that are deficient around the world are Vitamin A, folate (B9), iodine, iron and zinc. Iron is the most common micronutrient deficiency globally.
Some of the more common minerals are:

• Boron
  • Low: bone mineralization, problems with use of Vitamin D, calcium and magnesium
• Calcium
  • Low: problems with bone metabolism, cardiovascular disease, pregnancy complications and cancers
  • High: generally not a problem but can have increased risk of nephrolithiasis or myocardial infarction
• Cobalt
  • Low: problems with Vitamin B12 and glucose regulation
• Chromium
  • Low: impaired glucose and cholesterol regulation
• Copper
  • Low: impaired bone, cardiovascular immune and neurological system functions
  • High: rare – cell damage or death
• Chloride
  • Low: rare – gastrointestinal problems, hypokalemic metabolic alkalosis, growth failure
  • High: uncommon
• Iodine
  • Low: hypothyroidism, cognitive impairment, congenital abnormalities
  • High: gastrointestinal problems, diarrhea, nausea/emesis, cardiovascular problems, thyroid problems
• Iron – most common micronutrient deficiency globally
  • Low: microcytic hypochromic anemia
  • High: gastrointestinal symptoms such as diarrhea, constipation, nausea/emesis
• Magnesium
  • Low: very common and is estimated that 50% of US population is deficient. Can have problems with metabolic, cardiovascular, psychiatric and respiratory systems, can have arrhythmias and muscle spasms
  • High: rare but can have bradycardia, hypotension and coma
• Manganese
  • Low: extremely rare, only reported under experimental conditions
• Molybdenum
  • Low: not reported due to dietary deficiency
  • High: only reported in unusual soil conditions and present with joint or gout-like problems
• Phosphorus
  • Low: bone demineralization, nervous system dysfunction with muscle weakness and tremors
  • High: rare, can see cardiovascular disease, calcification and endothelial dysfunction
• Potassium
  • Low: rare, hypertension, cardiovascular disease
• Selenium – has narrow range of safety
  • Low: cognitive problems, impaired immune system, fetal development problem, infertility, thyroid dysfunction
  • High: hypotension, tremor, tachycardia, muscle spasms
• Sodium
  • Low: hyponatremia
  • High: hypertension
  • Source: most common food is processed food not table salt
• Zinc
  • Low: rash, cheilitis, impaired immune system, hypogonadism, impaired taste
  • High: rare – nausea/emesis

Questions for Further Discussion
1. What are some of the causes of food insecurity in your local area?
2. Under what circumstances do you test for mineral deficiencies?
3. What types, and number of infections, make you consider an immune deficiency?
4. What do picky eaters not really eat? A review can be found here

Related Cases

Disease: Minerals | Viral Infections | Vitamins

Symptom/Presentation: Frequent or Recurrent Infections

Specialty: Nutrition / Dietetics

Age: Toddler

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Malnutrition and Vitamins.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Heffernan SM, Horner K, De Vito G, Conway GE. The Role of Mineral and Trace Element Supplementation in Exercise and Athletic Performance: A Systematic Review. Nutrients. 2019;11(3):696. doi:10.3390/nu11030696

Lowe NM. The global challenge of hidden hunger: perspectives from the field. Proc Nutr Soc. 2021;80(3):283-289. doi:10.1017/S0029665121000902

Oh C, Keats EC, Bhutta ZA. Vitamin and Mineral Supplementation During Pregnancy on Maternal, Birth, Child Health and Development Outcomes in Low- and Middle-Income Countries: A Systematic Review and Meta-Analysis. Nutrients. 2020;12(2):491. doi:10.3390/nu12020491

Dubey P, Thakur V, Chattopadhyay M. Role of Minerals and Trace Elements in Diabetes and Insulin Resistance. Nutrients. 2020;12(6):1864. doi:10.3390/nu12061864

Espinosa-Salas S, Gonzalez-Arias M. Nutrition: Micronutrient Intake, Imbalances, and Interventions. In: StatPearls. StatPearls Publishing; 2025. Accessed May 12, 2025. http://www.ncbi.nlm.nih.gov/books/NBK597352/

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa