PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD | |
LACTIC ACIDEMIA WITH PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY | |
608782
OMIM = Online Mendelian Inheritance of Men | |
79246 | |
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial | |
3.1.3.43 | |
8q22.1 |
|
E74.4 | |
very rare autosomal recessive mutation in the PDP1 gene | |
Laboratory findings | Alanine inc (plasma) Ketone bodies (urine) inc (urine) L-Lactic acid inc (plasma) Pyruvic acid inc (plasma) |
Symptoms | developmental delay dysphagia failure to thrive hypotonia ketosis, ketoacidosis lactic acidosis mental retardation MRI, brain, abnormalities [-] nystagmus onset, infancy onset, neonatal seizures |