Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Neurology. 2005 Apr 12;64(7):1255-7. doi: 10.1212/01.WNL.0000156800.23776.40.

Abstract

Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aggression / physiology
  • Animals
  • Brain / enzymology*
  • Brain / physiopathology*
  • Brain Chemistry / genetics
  • COS Cells
  • Chlorocebus aethiops
  • DNA Mutational Analysis
  • Gene Expression Regulation, Enzymologic / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Glycine Dehydrogenase (Decarboxylating) / genetics*
  • Humans
  • Hyperglycinemia, Nonketotic / enzymology*
  • Hyperglycinemia, Nonketotic / genetics*
  • Hyperglycinemia, Nonketotic / physiopathology
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics
  • Male
  • Muscle Hypotonia / enzymology
  • Muscle Hypotonia / genetics
  • Mutation, Missense / genetics*
  • Pedigree
  • Personality Disorders / enzymology
  • Personality Disorders / genetics
  • Phenotype

Substances

  • Glycine Dehydrogenase (Decarboxylating)