About The Medical Condition Amylopectinoses
Find the definition of the medical term Amylopectinoses. Amylopectinoses defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Amylopectinoses
| Amylopectinoses Medical Condition |
|---|
What's The Definition Of The Medical Condition Amylopectinoses?
An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (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.
|
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
- Nerve, Ophthalmic ‐ A sensory branch of the trigeminal (5th cranial) nerve. The ophthalmic…
- Malformation, Arnold-Chiari ‐ A group of congenital malformations involving the brainstem,…
- Alpha-Immunoglobulin ‐ Heavy chains found in the Fab and Fc fragments of IMMUNOGLOBULIN…
- Thyroiditides, Autoimmune ‐ Progressive enlargement of the thyroid gland, often associated…
- Artificial Heart ‐ A pumping mechanism that duplicates the output, rate, and blood…
- Progressive Paraparesis, Chronic ‐ Mild to moderate loss of bilateral lower extremity motor function,…
- Cells, Oxyntic ‐ Cells of the gastric glands which secrete hydrochloric acid and…
- Practice Patterns, Clinical ‐ Patterns of practice related to diagnosis and treatment as especially…
- Staff Workloads ‐ The total amount of work to be performed by an individual, a…
- Renographies, Radioisotope ‐ Graphic tracing over a time period of radioactivity measured…