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3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency: A review
Author(s) -
Wysocki S. J.,
Hähnel R.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799652
Subject(s) - coenzyme a , endocrinology , medicine , leucine , biology , enzyme , physiology , biochemistry , reductase , amino acid
Children with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency (HMG‐CoA‐LD; McKusick 24645), have inherited two areas of metabolic weakness. Firstly, they are unable to metabolize fully the carbon skeleton of leucine, and secondly, they cannot make ketone bodies in response to prolonged fasting. In the first year of life infants with HMG‐CoA‐LD run a high risk of developing severe hypoglycaemia which can lead to death if prompt intervention does not occur. The metabolic crisis develops when the infant is first introduced to dietary protein soon after birth, or later, when a reduced intake of glucose, often during a viral infection, results in a drain on the infant's circulating glucose levels. However, where diets are adequately adjusted to limit protein and fat intake, the metabolic handicaps of individuals with HMG‐CoA‐LD are not exposed and they are virtually symptomless. As children with HMG‐CoA‐LD grow older the incidence of hypoglycaemic attacks diminishes and they usually develop normally. This article reviews literature on cases of HMG‐CoA‐LD and interprets data on altered metabolism in these children.