N-acetylaspartic aciduria in Canavan disease: another proof in two infants.
Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.
Yalaz
K
K
Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Topçu
M
M
Topaloğlu
H
H
Gürçay
O
O
Ozcan
O E
OE
Onol
B
B
Renda
Y
Y
D000581:Amidohydrolases / Q000172:deficiency*; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D009410:Nerve Degeneration / Q000502:physiology
D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase