Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy

Pediatr Neurol. 2010 Aug;43(2):135-8. doi: 10.1016/j.pediatrneurol.2010.04.007.

Abstract

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.

Publication types

  • Case Reports

MeSH terms

  • Demyelinating Diseases / complications
  • Demyelinating Diseases / urine*
  • Female
  • Genetic Association Studies
  • Homocystinuria / complications
  • Homocystinuria / urine*
  • Humans
  • Infant
  • Methylmalonic Acid / urine*
  • Neural Conduction / physiology
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / urine*

Substances

  • Methylmalonic Acid