A hypotonic infant with complete deficiencies of acid maltase and debrancher enzyme

J Child Neurol. 1994 Jan;9(1):90-1. doi: 10.1177/088307389400900122.

Abstract

Infantile acid maltase deficiency is an autosomal recessive disease that invariably leads to death in the first 2 years of life. Debrancher deficiency, also an autosomal recessive disease, however, carriers a slowly progressive course. We report a hypotonic infant with a typical clinical course of infantile acid maltase deficiency in whom biochemical investigation revealed complete deficiencies of both acid maltase and debrancher enzyme.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations
  • Chromosome Disorders
  • Electromyography
  • Fatal Outcome
  • Glucan 1,4-alpha-Glucosidase / deficiency*
  • Glucan 1,4-alpha-Glucosidase / genetics
  • Glycogen Storage Disease Type III / enzymology*
  • Glycogen Storage Disease Type III / genetics
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / enzymology*
  • Muscle Hypotonia / genetics

Substances

  • Glucan 1,4-alpha-Glucosidase