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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 28/02/07 |
Symbol | ACAD8D |
Location | 11q25 |
Name | Acyl-CoA dehydrogenase deficiency, member 8 |
Other name(s) | isobutyryl-CoA dehydrogenase deficiency |
Corresponding gene | ACAD8 |
Other symbol(s) | IBDH |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/aminoacids |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| Arg302Gln sustitution in a single patient
| |