ArticleIndian journal of pediatrics2021
Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.
Article in Indian journal of pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Addressing micronutrient deficiencies and vitamin metabolism disorders in pediatric pulmonary hypertension: a strategic proposal for low- and middle-income countries.Frontiers in cardiovascular medicine · 2026Review
- Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.Frontiers in immunology · 2025Article
- Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.Indian journal of pediatrics · 2024Article
- Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Orphanet journal of rare diseases · 2024Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
Combined methylmalonic aciduria and homocystinuria, cblC type, (MAHCC) is a rare autosomal recessive metabolic disorder of remethylation caused due to mutations in the MMACHC (metabolism of cobalamin associated C) gene with predominant neurological involvement. Microvascular, renal, and cardiovascular complications are also known to occur. However, the disease presenting primarily with a cardiovascular phenotype without any neurological involvement is a rare entity. We report a case of developmentally normal 23-mo-old female child, who presented with pulmonary arterial hypertension (PAH) and succumbed to cardiac failure. Extensive workup for PAH was inconclusive. Posthumous trio whole-exome sequencing revealed pathogenic compound heterozygous variants in the MMACHC. Diagnosis of MAHCC should be considered as a differential diagnosis for unexplained PAH in children. An elevated plasma homocysteine level can serve as a simple screening modality for this disorder. Accurate diagnosis has paramount therapeutic implications, as management with hydroxocobalamin and betaine may lead to partial or complete remission of PAH in these patients.
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