[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)]

Orv Hetil. 1992 Nov 29;133(48):3075-80.
[Article in Hungarian]

Abstract

The genetical types were classified according to the clinical findings and biochemical results in cases of 13 newborn/children suffering from various aminoacidopathies. The genetical types were: 3 neonatal and 4 infantile types were found out of 7 non-ketotic disease (MSUD) patient was infantile type with 9.1 per cent keto acid decarboxylase activity in leukocyte homogenate. Among the 3 histidinemic patients 1 was severe neonatal type and 2 cases were chronic types. The 2 treated tyrosinemic children proved to be type III. (chronic with rickets).

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Female
  • Histidine / blood
  • Humans
  • Hyperglycemia / genetics
  • Hyperglycemia / metabolism
  • Infant
  • Infant, Newborn
  • Male
  • Maple Syrup Urine Disease / genetics
  • Maple Syrup Urine Disease / metabolism
  • Tyrosine / blood

Substances

  • Tyrosine
  • Histidine