PMID: 6170906Jan 1, 1981Paper

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase

Neuroradiology
G LissonC Wallesch

Abstract

Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly similar to findings in patients with spongy degeneration (Canavan).

References

Jan 1, 1978·Neuroradiology·E BoltshauserW Isler
Jan 1, 1979·The Journal of Pediatrics·R B SchutgensS K Wadman
Aug 2, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·S J WysockiP K Panegyres
Apr 29, 1976·The New England Journal of Medicine·K FaullP L Masters
Feb 1, 1968·Neurology·I FeiginG Budzilovich
Apr 1, 1966·Journal of Neuropathology and Experimental Neurology·N Malamud
Jan 1, 1980·Neuroradiology·I M Holland, B E Kendall

❮ Previous
Next ❯

Citations

Dec 1, 1988·European Journal of Pediatrics·K M GibsonW L Nyhan
May 29, 2004·Journal of Physiology and Biochemistry·J PieF G Hegardt
Feb 27, 2009·Journal of Inherited Metabolic Disease·S ReimãoJ Campos
Jun 17, 1999·Pediatric Neurology·C YalçinkayaA Aydin
Jan 1, 1991·Journal of Inherited Metabolic Disease·P T OzandH Gleispach
Oct 1, 1995·The Journal of Pediatrics·R MatalonR Kaul
Aug 19, 2007·Molecular Genetics and Metabolism·Juan PiéNúria Casals
Jul 14, 2007·Pediatric Neurology·Dimitrios I ZafeiriouGrant A Mitchell
Apr 1, 1992·Journal of Child Neurology·J Brismar
Feb 16, 2020·Orphanet Journal of Rare Diseases·Sarah C Grünert, Jörn Oliver Sass
Jan 1, 1997·Genetic Testing·R Matalon

❮ Previous
Next ❯

Related Concepts

Related Feeds

Canavan Disease

Canavan disease, a type of leukodystrophy, is an autosomal recessive neurodegenerative disorder, and is one of the most common degenerative cerebral diseases of infancy. Discover the latest research on Canavan disease here.

Biosynthetic Transformations

Biosyntheic transformtions are multi-step, enzyme-catalyzed processes where substrates are converted into more complex products in living organisms. Simple compounds are modified, converted into other compounds, or joined together to form macromolecules. Discover the latest research on biosynthetic transformations here.