Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Annals of Neurology
H Y ZoghbiK M Gibson

Abstract

A 6 1/2-month-old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right focal motor seizures, right hemiparesis, elevated transaminase levels, hyperammonemia, and acidosis. A computed tomographic scan of the head suggested swelling of the left cerebral hemisphere, and an electroencephalogram indicated left frontotemporal abnormalities, but brain biopsy demonstrated diffuse white matter spongiosis and gliosis. Subsequently, urine organic acid analysis and enzyme assays were diagnostic of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

References

Jan 1, 1979·The Journal of Pediatrics·R B SchutgensS K Wadman
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Jan 1, 1967·Acta paediatrica Scandinavica·P RantakallioO Wasz-Höckert
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Citations

Dec 1, 1988·European Journal of Pediatrics·K M GibsonW L Nyhan
Jan 1, 1988·Journal of Inherited Metabolic Disease·K M GibsonF Reverte
Jun 10, 2010·Journal of Inherited Metabolic Disease·Beatriz PuisacJuan Pié
Nov 1, 1994·Brain & Development·B StigsbyP T Ozand
Jun 17, 1999·Pediatric Neurology·C YalçinkayaA Aydin
Jan 1, 1991·Journal of Inherited Metabolic Disease·P T OzandH Gleispach
Oct 1, 1989·European Journal of Pediatrics·M SteinlinG Niemeyer
Jan 1, 1994·European Journal of Pediatrics·A Kohlschütter
Aug 1, 2006·Pediatric Neurology·Yüksel YýlmazCanan Kocaman
Jun 1, 2000·Journal of Child Neurology·S G PavlakisM G Bialer

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