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Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report

✍ Scribed by N. J. Ferris; R. D. Tien


Publisher
Springer
Year
1993
Tongue
English
Weight
478 KB
Volume
35
Category
Article
ISSN
0028-3940

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3-hydroxy-3-methylglutaryl-coenzyme A ly
✍ K. M. Gibson; J. Breuer; W. L. Nyhan πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 714 KB

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or co