[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)].
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).
László
A
A
Gyermekklinika, Szent-Györgyi A. Orvostudományi Egyetem, Szeged.
Nagy
I
I
Szücs
L
L
Havass
Z
Z
Sztriha
L
L
Svékus
A
A
Veres
E
E
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006639:Histidine / Q000097:blood; D006801:Humans; D006943:Hyperglycemia / Q000235:genetics / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000235:genetics / Q000378:metabolism; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D006639:Histidine
Néhány aminoacidopathia (non-ketotikus hyperglycinaemia, jávorfaszörp-betegség, histidinaemia, tyrosinaemia) biokémiai, klinikai és genetikai elemzése.