Glycogen Debranching Enzyme Deficiency Medical Condition Defined & Explained

About The Medical Condition Glycogen Debranching Enzyme Deficiency

Find the definition of the medical term Glycogen Debranching Enzyme Deficiency. Glycogen Debranching Enzyme Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Glycogen Debranching Enzyme Deficiency

Glycogen Debranching Enzyme Deficiency Medical Condition
What's The Definition Of The Medical Condition Glycogen Debranching Enzyme Deficiency? An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.

Glycogen Debranching Enzyme Deficiency Medical Condition

What's The Definition Of The Medical Condition Glycogen Debranching Enzyme Deficiency?

An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.

More Medical Conditions

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Medical Conditions Definitions Of The Day

Religious Belief ‐ A set of beliefs concerning the nature, cause, and purpose of…
Cardiac Ruptures ‐ Laceration or tearing of the walls of the heart, of the interatrial…
Tyrosine Hydroxylase ‐ An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin,…
Achondroplasia ‐ An autosomal dominant disorder that is the most frequent form…
Ticks ‐ Blood-sucking acarid parasites of the order Ixodida comprising…
Benign Hepatomas ‐ A benign epithelial tumor of…
Deficiency, Vitamin B6 ‐ A nutritional condition produced by a deficiency of VITAMIN B…
Hyposensitization Therapies ‐ Immunosuppression by the administration of increasing doses of…
Psychological Models ‐ Theoretical representations that simulate psychological processes…
Anhydrous Tolmetin Sodium ‐ A non-steroidal anti-inflammatory agent (ANTI-INFLAMMATORY AGENTS,…