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).
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Authors | A László, I Nagy, L Szücs, Z Havass, L Sztriha, A Svékus, E Veres |
Journal | Orvosi hetilap
(Orv Hetil)
Vol. 133
Issue 48
Pg. 3075-80
(Nov 29 1992)
ISSN: 0030-6002 [Print] Hungary |
Vernacular Title | Néhány aminoacidopathia (non-ketotikus hyperglycinaemia, jávorfaszörp-betegség, histidinaemia, tyrosinaemia) biokémiai, klinikai és genetikai elemzése. |
PMID | 1448273
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Amino Acid Metabolism, Inborn Errors
(genetics, metabolism)
- Female
- Histidine
(blood)
- Humans
- Hyperglycemia
(genetics, metabolism)
- Infant
- Infant, Newborn
- Male
- Maple Syrup Urine Disease
(genetics, metabolism)
- Tyrosine
(blood)
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