Abstract
A 20 year old male of consanguinous Turkish parents presented with mental and physical retardation, ataxia, hypotonia, and EEG-abnormalities. Gas chromatographic-mass spectrometric studies of urinary organic acids identified two hitherto unobserved metabolites: γ-hydroxybutyric acid (GHB), 1728 μmol/l, and succinic semialdehyde (SSA), 47 μmol/l. GHB could also be detected in serum, 943 μmol/l and spinal fluid, 596 μmol/l. A new metabolic block is postulated, due to a deficiency of SSA-dehydrogenase, which converts SSA to succinic acid in the γ-aminobutyric acid (GABA) catabolic pathway. SSA degradated from GABA cannot enter the Krebs cycle and may be hydrogenated to GHB. GHB was previously used as an anesthetic drug until its neuropharmalogical and neurophysiological side effects became obvious. At present however we cannot definitely conclude that a connection between the GHB elevation in body fluids and the clinical status of this child exists. As some anticonvulsants prevent and reverse the GHB induced EEG-abnormalities we have been prompted to initiate a clinical trial with ethosuximide and sodium valproate. In the meantime we have discovered a pair of siblings presenting with mental retardation, behavioral problems, and ataxia who show the same organic acid profile. This finding supports the hypothesis that this pattern reflects a new inherited disorder.
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Jakobs, C., Bojasch, M., Mönch, E. et al. 1136 URINARY EXCRETION OF GAMMA-HYDROXYBUTYRIC ACID IN A PATIENT WITH NEUROLOGICAL ABNORMALITIES; A NEW INBORN ERROR OF AMINO ACID METABOLISM?. Pediatr Res 15 (Suppl 4), 632 (1981). https://doi.org/10.1203/00006450-198104001-01162
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DOI: https://doi.org/10.1203/00006450-198104001-01162