glycogen storage disease

(redirected from type IB)
Also found in: Dictionary, Thesaurus, Legal, Encyclopedia.

glycogen

 [gli´ko-jen]
a polysaccharide that is the chief carbohydrate storage material in animals, being converted to glucose by depolymerization; it is formed by and largely stored in the liver, and to a lesser extent in muscles, and is liberated as needed.
glycogen disease glycogen storage disease.
glycogen storage disease any of a group of genetically determined disorders of glycogen metabolism, marked by abnormal storage of glycogen in the body tissues. Type I is called gierke's disease; type II is called pompe's disease; type III is called forbes' disease; type IV is called amylopectinosis; type V is called mcardle disease; and type VI is called hers' disease. In type VII, a deficiency in phosphofructokinase affects muscle and erythrocytes, with temporary weakness and cramping of skeletal muscle after exercise. In type VIII, the enzyme deficiency is unknown, but the liver and brain are affected, with hepatomegaly, truncal ataxia, and nystagmus; the neurologic deterioration progresses to hypertonia, spasticity, and death. In type IX, a deficiency in liver phosphorylase kinase results in marked hepatomegaly, which may disappear in early adulthood. In type X, a lack of activity of cyclic AMP–dependent kinase affects the liver and muscle, with mild clinical symptoms. Called also glycogen disease and glycogenosis.

glycogen storage disease

n.
Any of various genetic diseases caused by deficiency of one of the enzymes involved in breaking down or synthesizing glycogen, resulting in storage of abnormal amounts or types of glycogen and often affecting the liver, muscles, or both. Also called glycogenosis.
A clinically benign autosomal recessive [MIM 232700] metabolic disorder caused by a deficit of glycogen phosphorylase [EC 2.4.1.1] encoded on 14q21-q22

glycogen storage disease

Glycogenosis Any of a group of 12 inherited AR defects in the ability to store and/or retrieve glucose from intracellular depots, resulting in accumulation of glycogen in liver, muscle, heart, kidney, and other tissues enzyme defects, and hepatosplenomegaly, cardiomegaly, mental retardation–eg, dancing eyes syndrome–GSD VIII
Glycogen storage disease
Type  Deficient enzyme
0 Hepatic glycogen synthetase
I Glucose-6-phosphatase
II Lysosomal acid maltase alpha-1,4 glucosidase
III Amylo-1,6 glucosidase ('debrancher' disease)
IV Amylo-1,4-1,6-trans-glucosidase–'brancher' disease
V  Myophosphorylase
VI Hepatic phosphorylase
VII Phosphofructokinase
VIII Inactive hepatic phosphorylase  
References in periodicals archive ?
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).
Although SJS types IA and IB both involve a mutation of the perlecan gene, type IB is a more severe condition and, therefore, is usually diagnosed earlier than type IA.
Type Ib (41.5%) and Type II (48.8%) were the most common insertion patterns in our series.
"Pinpointing a progenitor star at exactly the same location as a Type Ib supernova was the best way to test the theories about the genesis of this type of explosion," Kasliwal said.
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
The absence of rib fractures and the evidence of ossification in the vertebral pedicles allowed the diagnosis of type IB.
Tenders are invited for Renovation works to assam type ib non executives at c.t.o.
In CDG group I, which includes all defects in N-glycan assembly (2), the subgroup CDG type Ib, attributable to phosphomannose isomerase (EC 5.3.1.8.) deficiency, is treatable by mannose supplementation (3).
Soderberg's radio observations demonstrate that only about 1% of Type Ib and Ic supernovae are accompanied by GRBs.
Exploding white dwarfs are Type Ia; exploding massive stars are Type Ib, Ic, or II SN 1987A was Type II).
The supernova's spectrum tagged it as Type Ib or Ic: a very hot, very massive, nearly hydrogen-free Wolf-Rayet star blown apart when its core violently imploded to form a neutron star or black hole.
The Committee also adopted by consensus positive opinions for two type IB variation applications (subject to worksharing procedures) for Fevaxyn Pentofel (and a purely-nationally authorised product) concerning quality changes.