Néhány aminoacidopathia (non-ketotikus hyperglycinaemia, jávorfaszörp-betegség, histidinaemia, tyrosinaemia) biokémiai, klinikai és genetikai elemzése.

Translated title of the contribution: Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)

A. László, I. Nagy, L. Szücs, Z. Havass, L. Sztriha, A. Svékus, E. Veres

Research output: Contribution to journalArticle

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).

Translated title of the contributionBiochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)
Original languageHungarian
Pages (from-to)3075-3080
Number of pages6
JournalOrvosi hetilap
Volume133
Issue number48
Publication statusPublished - Nov 29 1992

ASJC Scopus subject areas

  • Medicine(all)

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