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A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

✍ Scribed by E. Marklová; P. Verner; F. Pehal; M. Brátová; J. Polák


Publisher
Springer
Year
1987
Tongue
English
Weight
73 KB
Volume
10
Category
Article
ISSN
0141-8955

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3-hydroxy-3-methylglutaryl-coenzyme A ly
✍ K. M. Gibson; J. Breuer; W. L. Nyhan 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 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