Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D000596:Amino Acids / Q000652:urine; D000599:Amino Acids, Diamino / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D003437:Crotonates / Q000652:urine; D003555:Cystinuria; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000652:urine*; D011422:Propionates / Q000097:blood*
D000596:Amino Acids; D000599:Amino Acids, Diamino; D003437:Crotonates; D011422:Propionates; C002163:beta-methylcrotonylglycine; D005998:Glycine