Combined iminoglycinuria and cystine‐ and dibasic aminoaciduria in patients with propionic acidaemia and 3‐methylcrotonylglycinuria
P. Purkiss, R. A. Chalmers, O. Borud
Abstract
P. Purkiss, R. A. Chalmers, O. Borud
Abstract
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.
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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.
Key concepts: Aminoaciduria, Cystinuria, Cystine, Dibasic acid, Urinary system, Amino acid, Urine, Chemistry