A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report. Issue 4 (4th July 2022)

• Record Type: Journal Article
• Authors: Zhou, Li; Yang, Qin
• Is Part Of: Neurocase. Volume 28:Issue 4(2022)
• Page Start: 388
• Page End: 392
• Publication Date: 2022-07-04
• Subjects: Cobalamin C deficiency -- MMACHC -- methylmalonic aciduria -- homocysteinemia -- late-onset; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2022.2132870
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: 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 B12, 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.