[Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathy].
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D001303:Auditory Cortex / Q000503:physiopathology; D002675:Child, Preschool; D003638:Deafness / Q000209:etiology; D004569:Electroencephalography; D005071:Evoked Potentials; D005260:Female; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000097:blood*; D007930:Leucine / Q000097:blood*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D011392:Proline / Q000097:blood*; D012162:Retinal Degeneration / Q000209:etiology; D000637:Transaminases / Q000378:metabolism
D007532:Isoleucine; D011392:Proline; D000637:Transaminases; D007930:Leucine
Hyperleucinisoleucinémie par défaut partiel de transamination associée á une hyperprolinémie de type 2. Observation familiale d'une double aminoacidopathie.