4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.

European Journal of Pediatrics
W OnkenhoutB J Poorthuis

Abstract

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.

References

Jan 1, 1985·Journal of Inherited Metabolic Disease·E A HaanD M Danks
Jun 1, 1988·European Journal of Pediatrics·K M GibsonR R Fife
Apr 25, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·P DivryS K Wadman
Jan 1, 1984·Journal of Inherited Metabolic Disease·D RatingP Divry
Jan 1, 1984·Journal of Inherited Metabolic Disease·C JakobsM Hermier
Jan 1, 1984·Journal of Inherited Metabolic Disease·K M GibsonP Divry
Apr 9, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·C JakobsF Hanefeld

❮ Previous
Next ❯

Citations

Aug 2, 2003·Annals of Neurology·Phillip L PearlK Michael Gibson
Mar 1, 1995·Journal of Neurology·R Gil, J P Neau
Nov 1, 1992·General Pharmacology·G Tunnicliff
Nov 1, 1994·Brain & Development·B StigsbyP T Ozand
Nov 1, 1994·Brain & Development·Z RahbeeniJ Brismar
Jan 1, 1997·Journal of Toxicology. Clinical Toxicology·G Tunnicliff
May 6, 2005·Journal of Psychopharmacology·Alejandro Gonzalez, David J Nutt

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.