ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Anaplerotic therapy in propionic acidemia.Molecular genetics and metabolism · 2017Trial
- Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.Journal of inherited metabolic disease · 2026Review
- Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic Review.Journal of personalized medicine · 2025Review
- Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.Human molecular genetics · 2023Article
- Euglycemic diabetic ketoacidosis related to SGLT2 inhibitor use in a patient with cobalamin C deficiency and diabetes.Annals of internal medicine. Clinical cases · 2023Article
- Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.iScience · 2022Review
- The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.Frontiers in genetics · 2022Article
- When to measure plasma homocysteine and how to place it in context: The homocystinurias.Journal of mother and child · 2020Review
- Emerging Concepts in Nutrient Needs.The Journal of nutrition · 2020Review
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.BMC medical genetics · 2020Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Methylmalonic acidemia: Current status and research priorities.Intractable & rare diseases research · 2018Review
- Scientific rigor and credibility in the nutrition research landscape.The American journal of clinical nutrition · 2018Article
- Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.Current opinion in clinical nutrition and metabolic care · 2018Review
- Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.Molecular genetics and metabolism · 2017Article
- Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.Journal of clinical medicine · 2017Review
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Journal of inherited metabolic disease · 2017Review
- Disorders of branched chain amino acid metabolism.Translational science of rare diseases · 2016Article
- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.JIMD reports · 2016Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
purposeCobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia. However, some patients with cblC deficiency are treated with medical foods, devoid of methionine and high in leucine content, that are formulated for patients with isolated propionate oxidative defects. We examined the effects of imbalanced branched-chain amino acid intake on growth outcomes in cblC-deficient patients.
methodsDietary intake was correlated with biochemical, anthropometric, and body composition measurements and other disease parameters in a cohort of 28 patients with early-onset cblC deficiency.
resultsProtein-restricted diets were followed by 21% of the patients, whereas 32% received medical foods. Patients on protein-restricted diets had lower height-for-age z-score (P = 0.034), whereas patients consuming medical foods had lower head circumference Z-scores (P = 0.037), plasma methionine concentrations (P = 0.001), and predicted methionine influx through the blood-brain barrier Z-score (-1.29 vs. -0.0617; P = 0.007). The combination of age at diagnosis, a history of seizures, and the leucine-to-valine dietary intake ratio best predicted head circumference Z-score based on multiple regression modeling (R(2) = 0.945).
conclusionsPatients with cblC deficiency treated with medical foods designed for isolated methylmalonic acidemia are at risk for iatrogenic methionine deficiency that could adversely affect brain growth and development.Genet Med 18 4, 396-404.
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