Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency
M Tuchman, BI Brown, BA Burke, RA Ulstrom - Metabolism, 1986 - Elsevier
M Tuchman, BI Brown, BA Burke, RA Ulstrom
Metabolism, 1986•ElsevierA 3-year-old child with glycogenosis due to hepatic phosphorylase kinase deficiency is
described. His clinical presentation was unusually severe. Biochemical studies revealed a
lack of hypoglycemia, the presence of marked ketosis and hyperlipidemia, and a normal
glycemic response to glucagon and to loading with galactose, fructose, and alanine. The
ketosis was reversed by glucagon administration. Changes in plasma concentrations of
lactate, pyruvate, β-OH butyrate, and alanine in response to glucagon, galactose, fructose …
described. His clinical presentation was unusually severe. Biochemical studies revealed a
lack of hypoglycemia, the presence of marked ketosis and hyperlipidemia, and a normal
glycemic response to glucagon and to loading with galactose, fructose, and alanine. The
ketosis was reversed by glucagon administration. Changes in plasma concentrations of
lactate, pyruvate, β-OH butyrate, and alanine in response to glucagon, galactose, fructose …
Abstract
A 3-year-old child with glycogenosis due to hepatic phosphorylase kinase deficiency is described. His clinical presentation was unusually severe. Biochemical studies revealed a lack of hypoglycemia, the presence of marked ketosis and hyperlipidemia, and a normal glycemic response to glucagon and to loading with galactose, fructose, and alanine. The ketosis was reversed by glucagon administration. Changes in plasma concentrations of lactate, pyruvate, β-OH butyrate, and alanine in response to glucagon, galactose, fructose, and alanine administration are reported. The child responded poorly to a high protein diet. His condition improved markedly with a high carbohydrate diet. The significance of the findings is discussed.
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