Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

Arch Dis Child. 1987 Oct;62(10):1066-7. doi: 10.1136/adc.62.10.1066.

Abstract

A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.

Publication types

  • Case Reports

MeSH terms

  • Carnitine / deficiency*
  • Carnitine / therapeutic use
  • Dicarboxylic Acids / urine*
  • Glycogen Storage Disease / metabolism*
  • Glycogen Storage Disease Type IV / complications
  • Glycogen Storage Disease Type IV / metabolism*
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / etiology
  • Muscle Hypotonia / therapy

Substances

  • Dicarboxylic Acids
  • Carnitine