C. Jakobs, L. Smit, J. Kneer
May 1, 1990
Citations
0
Influential Citations
24
Citations
Quality indicators
Journal
Journal of Inherited Metabolic Disease
Abstract
4-Hydroxybutyric aciduria is an autosomal recessive inborn error of metabolism in GABA-breakdown, firstly described by Jakobs et aI. (1981). The enzyme defect has been demonstrated at the level of succinic semialdehyde dehydrogenase (SSA DH) by Gibson et al. (1983). The clinical manifestation of the disease regularly includes psychomotor retardation, but its degree may be mild, moderate or severe. Hypotonia is usually seen in infancy. Ataxia and seizures have been seen in some, but not all patients. Some patients have had extreme hyperactivity, others have been so somnolent they have been difficult to arouse or keep awake (Rating et al., 1984; Roesel et al., 1987; De Vivo et al., 1988; Gibson et al., 1989). The main biochemical hallmark is the presence of elevated levels of 4-hydroxybutyric acid (GHB) in the urine, plasma and CSF. Levels of other metabolites related to GHB, such as 3,4-dihydroxybutyric acid and glycolic acid are often elevated indicating that accumulated GHB is further degraded by means of a r-oxidation sequence (Jakobs et al., 1984). Hitherto about 15 cases, all infants, have been reported. We present here two further infantile cases and a 23-year-old female, the first known adult case with this disease.