COASY Protein-Associated Neurodegeneration (Q101870)
From determinar.ia.br - Determine suas informações
COASY (Coenzyme A Synthase) protein-associated neurodegeneration (CoPAN) is a rare but devastating genetic autosomal recessive disorder of inborn error of CoA (coenzyme A) metabolism, which shares with pantothenate kinase-associated neurodegeneration (PKAN) similar features, such as dystonia, parkinsonian traits, cognitive impairment, axonal neuropathy, and brain iron accumulation. These two disorders are part of the big group of neurodegenerations with brain iron accumulation (NBIA).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_849690656 |
||
| English | COASY Protein-Associated Neurodegeneration |
COASY (Coenzyme A Synthase) protein-associated neurodegeneration (CoPAN) is a rare but devastating genetic autosomal recessive disorder of inborn error of CoA (coenzyme A) metabolism, which shares with pantothenate kinase-associated neurodegeneration (PKAN) similar features, such as dystonia, parkinsonian traits, cognitive impairment, axonal neuropathy, and brain iron accumulation. These two disorders are part of the big group of neurodegenerations with brain iron accumulation (NBIA). |
