NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
Aminoacylase 1 deficiency is a novel inborn error of metabolism. The clinical significance of the deficiency is under discussion, as well as the possible consequences of the defect for brain metabolism and function. This study includes the five originally published cases as well as three novel ones. NMR spectroscopy of urine, serum and cerebrospinal fluid has been used to study these patients. A typical profile with 11 accumulating N-acetylated amino acids was observed in urine from the patients. The concentration of most of the accumulating metabolites is typically 100-500 micromol/mmol creatinine. Two additional minor N-acetylated metabolites remain unidentified. The concentrations of the accumulating metabolites are <20 micromol/L in serum from the patients. Interestingly we found no evidence of an increased concentration of N-acetylated amino acids in the cerebrospinal fluid from one patient. Our data define aminoacylase 1 deficiency at the metabolite level providing a specific urinary profile of accumulating N-acetylated amino acids.
Engelke
Udo F H
UF
Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands.
Sass
Jörn Oliver
JO
Van Coster
Rudy N
RN
Gerlo
Erik
E
Olbrich
Heike
H
Krywawych
Stefan
S
Calvin
Jacqui
J
Hart
Claire
C
Omran
Heymut
H
Wevers
Ron A
RA
D000107:Acetylation; D000293:Adolescent; D000581:Amidohydrolases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000503:physiopathology*; D000596:Amino Acids / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male
D000596:Amino Acids; D000581:Amidohydrolases; C019672:aminoacylase I