Monoamine oxidase A deficiency: biogenic amine metabolites in random urine samples.
We have recently described an association between abnormal behaviour and monoamine oxidase A (MAO-A) deficiency in several males from a single large Dutch kindred. A characteristically abnormal excretion pattern of biogenic amine metabolites was present in 24-hour urine of affected males. Because of this strikingly abnormal metabolite pattern observed in 24 hour urine samples of MAO-A deficient males we hypothesized that it should be possible to diagnose this condition by examining random urine samples. We therefore studied multiple urine samples obtained over a two-week study period from two males with selective MAO-A deficiency. The results demonstrate that the characteristic abnormalities in the excretion of biogenic amines and their metabolites were faithfully present in every one of 12 independent samples obtained from the MAO-A deficient males over the two-week study period. We conclude that MAO-A deficiency can be reliably diagnosed by measuring the ratio of normetanephrine (NMN) to VMA (or that of NMN to MHPG) in random urine samples.
Abeling
N G
NG
University of Amsterdam, Department of Clinical Chemistry and Department of Pediatrics, The Netherlands.
van Gennip
A H
AH
van Cruchten
A G
AG
Overmars
H
H
Brunner
H G
HG
D001679:Biogenic Amines / Q000652:urine*; D015415:Biomarkers / Q000652:urine; D004298:Dopamine / Q000652:urine; D004837:Epinephrine / Q000652:urine; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics; D008297:Male; D008734:Methoxyhydroxyphenylglycol / Q000652:urine; D008995:Monoamine Oxidase / Q000172:deficiency* / Q000235:genetics; D009426:Netherlands; D009638:Norepinephrine / Q000652:urine; D009647:Normetanephrine / Q000652:urine; D012701:Serotonin / Q000652:urine; D014642:Vanilmandelic Acid / Q000652:urine
D001679:Biogenic Amines; D015415:Biomarkers; D007527:Isoenzymes; D009647:Normetanephrine; D012701:Serotonin; D008734:Methoxyhydroxyphenylglycol; D014642:Vanilmandelic Acid; D008995:Monoamine Oxidase; D004298:Dopamine; D009638:Norepinephrine; D004837:Epinephrine