| Symbol
| PDHA1D
|
| Location
| Xp22.12
|
| Name
|
pyruvate dehydrogenase (lipoamide) alpha 1 deficiency |
| Corresponding gene
|
PDHA1
|
| Main clinical features
|
the most common causes of primary lactic acidosis in children with clinical spectrum of PDH deficiency ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the CNS without systemic acidosis |
| Genetic determination
| sex linked |
| Function/system disorder
| metabolism/carbohydrates |
| Type
| disease
|
| Name
| pyruvate dehydrogenase, E1 alpha polypeptide 1 (PDHA1)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| deletion
|
|
| deletion breakpoint contained a short direct repeat (GTAG)
| | insertion-deletion
|
|
| insertion/deletion mutations occur preferentially in exons 10 and 11, while missense/nonsense mutations are found in all exons
| |
| Remark(s)
|
almost equal numbers of affected males and females have been identified due to developmental lethality in some males with severe mutations and the pattern of X-inactivation in females; a difference in the distribution of the type of mutations is evident between both sexes |