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Combined iminoglycinuria and cystine‐ and dibasic aminoaciduria in patients with propionic acidaemia and 3‐methylcrotonylglycinuria
Author(s) -
Purkiss P.,
Chalmers R. A.,
Borud O.
Publication year - 1980
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02312533
Subject(s) - aminoaciduria , cystinuria , cystine , dibasic acid , urinary system , amino acid , urine , chemistry , medicine , endocrinology , biochemistry , cysteine , enzyme , organic chemistry
Urinary amino acids have been determined in six patients with propionic acidaemia, one of whom also showed 3‐methylcrotonylglycinuria. Two patients, including the subject with 3‐methylcrotonylglycinuria, showed a gross aminoaciduria with features of both cystinuria and iminoglycinuria. We suggest a defect in certain amino acid transport systems in some patients with these disorders.