Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

doi:10.1007/BF01958957

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Article

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

European journal of pediatrics - 1 Feb 1992

Wijburg F A, Rosenblatt D S, Vos G D, Oorthuys J W, van't Hek L G, Poorthuis B J, Sanders M K, Schutgens R B

Abstract excerpt

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase...

Topics

Biochemical Phenomena
Biochemistry
Consanguinity
Fibroblasts
Genetic Complementation Test
Glycogen Storage Disease Type II
Humans
Infant, Newborn
Male
Metabolism, Inborn Errors

Muscles

Mutation

Vitamin B 12

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