| Symbol
| PDHB
|
| Location
| 3p21.1-p14.3
|
| Name
|
pyruvate dehydrogenase deficiency, eta polypeptide |
| Other name(s)
|
pyruvate dehydrogenase deficiency, E1beta subunit |
| Corresponding gene
|
PDHB
|
| related resource
| MITOP database
|
| Main clinical features
|
severe primary lactic acidosis, neurological dysfunction, and early death
neonatal lactic acidosis, followed by failure to thrive and seizures with blood lactate very high and respiratory insufficiency |
Genetic determination
| Function/system disorder
| metabolism/organic acid | |
| neurology |
| Type
| disease
| |