Journal
NEUROCASE
Volume 28, Issue 4, Pages 388-392Publisher
ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD
DOI: 10.1080/13554794.2022.2132870
Keywords
Cobalamin C deficiency; MMACHC; methylmalonic aciduria; homocysteinemia; late-onset
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Funding
- National Natural Science Foundation of China [81671309, 81971229]
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This case report highlights the importance of considering inborn errors of metabolism in teenagers presenting with challenging or neurologic symptoms, especially when combined with unexplained heart diseases.
Combined methylmalonic acidemia and homocystinuria, is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. We report an 18-year-old Chinese male who presented with hypermyotonia, seizures, and congenital heart diseases. Mutation analysis revealed c.365A>T and c.482 G>A mutations in the MMACHC gene, diagnosed with methylmalonic aciduria and homocystinuria (CblC type). After treatment with vitamin B-12, L-carnitine, betaine, and folate, which resulted in an improvement in his clinical symptoms and laboratory values. This case emphasizes that inborn errors of metabolism should be considered for a teenager presenting with challenging or neurologic symptoms, especially when combined with unexplained heart diseases.
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