Disturbed serine metabolism and psychosis in a patient with a de novo translocation (2;10)(p23;q22.1).
Psychiatric diagnosing in mentally retarded patients is notoriously difficult and routine application of current taxonomies is of very limited use. Although psychotic disorders in general can be satisfactory grouped on a descriptive level, the aetiology is most probably very heterogeneous. In this case report a female patient is described who presented with mild mental retardation and recurrent affective psychotic episodes. Chromosome analysis showed a female karyotype with a de novo translocation (2;10)(p23;q22.1). Biochemical evaluation demonstrated a persistently increased taurine and decreased methionine in plasma, suggesting a disturbed one-carbon metabolism. Treatment with risperidone in combination with valproic acid resulted in prevention of further relapses and stabilisation of mood. An imbalance of chromosomes 2 and 10 was excluded by array CGH. A disruption of the PCBD gene could not be demonstrated by FISH.
Verhoeven
W M A
WM
Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. wverhoeven@vvgi.nl
Van Ravenswaaij-Arts
C M A
CM
De Leeuw
N
N
Fekkes
D
D
Van der Heijden
F M M A
FM
Egger
J I M
JI
Tuinier
S
S
D000328:Adult; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics; D017403:In Situ Hybridization; D007621:Karyotyping; D008715:Methionine / Q000097:blood; D011618:Psychotic Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D011622:Pterins / Q000378:metabolism; D012694:Serine / Q000235:genetics* / Q000378:metabolism*; D013654:Taurine / Q000097:blood; D014178:Translocation, Genetic / Q000235:genetics*
D011622:Pterins; D013654:Taurine; D012694:Serine; D008715:Methionine; D006836:Hydro-Lyases; C076392:pterin-4a-carbinolamine dehydratase