Biomaterial Database

Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study. 1976

G A Bannayan, and W J Dean, and R R Howell

The case of a 14-month-old Latin American girl with the diagnosis of Type IV glycogen-storage disease is reported. The diagnosis was reached on the basis of the typical clinical manifestations, the light- and electron-microscopic findings, and the demonstration of absence of the branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glucosyl transferase in the liver and in the cultured skin fibroblasts.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008112	Liver Glycogen	Glycogen stored in the liver. (Dorland, 28th ed)	Hepatic Glycogen,Glycogen, Hepatic,Glycogen, Liver
D005260	Female		Females
D005964	Glucosyltransferases	Enzymes that catalyze the transfer of glucose from a nucleoside diphosphate glucose to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.	Glucosyltransferase
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006011	Glycogen Storage Disease Type IV	An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.	Amylopectinosis,Andersen Disease,Brancher Deficiency,Glycogenosis 4,Andersen's Disease,Deficiency, Brancher,Gbe1 Deficiency,Glycogen Branching Enzyme Deficiency,Glycogen Storage Disease Type 4,Glycogenosis IV,Type IV Glycogenosis,Amylopectinoses,Andersens Disease,Brancher Deficiencies,Deficiencies, Brancher,Deficiencies, Gbe1,Deficiency, Gbe1,Disease, Andersen,Disease, Andersen's,Gbe1 Deficiencies,Glycogenoses, Type IV,Glycogenosis 4s,Glycogenosis IVs,Glycogenosis, Type IV,Type IV Glycogenoses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D015061	1,4-alpha-Glucan Branching Enzyme	In glycogen or amylopectin synthesis, the enzyme that catalyzes the transfer of a segment of a 1,4-alpha-glucan chain to a primary hydroxy group in a similar glucan chain. EC 2.4.1.18.	Amylopectin Branching Enzyme,Branching Enzyme,Glycogen Branching Enzyme,Q-Enzyme,Branching Glycosyltransferase,Starch Branching Enzyme,1,4 alpha Glucan Branching Enzyme,Branching Enzyme, 1,4-alpha-Glucan,Branching Enzyme, Amylopectin,Branching Enzyme, Glycogen,Branching Enzyme, Starch,Enzyme, 1,4-alpha-Glucan Branching,Enzyme, Amylopectin Branching,Enzyme, Branching,Enzyme, Glycogen Branching,Enzyme, Starch Branching,Glycosyltransferase, Branching,Q Enzyme