4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.
A 2.5-year-old girl presented with severely delayed speech development and mild motor retardation. Urinary organic acid analysis showed the presence of 4-hydroxybutyric acid and other metabolites consistent with the diagnosis 4-hydroxybutyric aciduria. Succinic semialdehyde dehydrogenase activity was absent in lymphocyte lysates. The clinical symptoms in this case were unusually mild compared to previously reported patients. No correlation was found between the mild symptoms and the levels of metabolite excretion or the residual succinic semialdehyde dehydrogenase activity in this patient compared to more severely affected cases.
Onkenhout
W
W
Department of Paediatrics, University Hospital, Leiden, The Netherlands.
Maaswinkel-Mooij
P D
PD
Poorthuis
B J
BJ
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000652:urine*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007805:Language Development Disorders / Q000175:diagnosis / Q000209:etiology; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
D006885:Hydroxybutyrates; D005680:gamma-Aminobutyric Acid