1.
Metabolism
; 29(11): 1013-9, 1980 Oct.
Article
in English
| MEDLINE
| ID: mdl-6107814
ABSTRACT
Two sisters with a rare inborn error of histidine metabolism resulting from urocanase deficiency are being presented. The more common form of familial histidinemia due to histidase deficiency is excluded. The urocanase deficiency is proven by demonstrating increased excretion of metabolites of the product of the urocanase enzyme action. Further, the strongest evidence for the urocanase defect rests on the demonstration of urocanase deficiency and normal histidase activity in liver.
Subject(s)
Histidine/urine , Hydro-Lyases/deficiency , Liver/enzymology , Urocanate Hydratase/deficiency , Adolescent , Adult , Amino Acid Metabolism, Inborn Errors , Child , Female , Formiminoglutamic Acid/urine , Histidine/blood , Histidine Ammonia-Lyase/analysis , Humans , Imidazoles/urine , Male , Skin/analysis , Urocanic Acid/analysis
2.
Lijec Vjesn
; 101(12): 746-50, 1979 Dec.
Article
in Croatian
| MEDLINE
| ID: mdl-545028
Subject(s)
Metabolism, Inborn Errors/epidemiology , Humans , Infant, Newborn , Mass Screening , Yugoslavia
3.
Lijec Vjesn
; 100(7): 417-20, 1978 Jul.
Article
in Croatian
| MEDLINE
| ID: mdl-581299
Subject(s)
Infant Food , Infant, Premature , Kidney/physiology , Milk , Animals , Humans , Infant, Newborn , Urea/blood , Urine
4.
Lijec Vjesn
; 91(9): 977-83, 1969.
Article
in Croatian
| MEDLINE
| ID: mdl-5199437