Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency.
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, beta-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.
Tuchman
M
M
Brown
B I
BI
Burke
B A
BA
Ulstrom
R A
RA
D020155:3-Hydroxybutyric Acid; D000409:Alanine / Q000097:blood; D001786:Blood Glucose / Q000378:metabolism; D002675:Child, Preschool; D006008:Glycogen Storage Disease / Q000378:metabolism* / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood; D007662:Ketosis / Q000209:etiology; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008099:Liver / Q000201:enzymology* / Q000473:pathology / Q000648:ultrastructure; D008112:Liver Glycogen / Q000378:metabolism; D008297:Male; D010764:Phosphorylase Kinase / Q000172:deficiency*; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid
D001786:Blood Glucose; D006885:Hydroxybutyrates; D007773:Lactates; D008112:Liver Glycogen; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid; D010764:Phosphorylase Kinase; D000409:Alanine; D020155:3-Hydroxybutyric Acid