| PYRUVATE DEHYDROGENASE DEFICIENCY (E1); PDC | |
| PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA | |
|
312170
OMIM = Online Mendelian Inheritance of Men | |
|
79243 | |
| Pyrpyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial | |
| 1.2.4.1 | |
| rare (1:250.000) X-linked dominant (E1alpha subunit) 1) X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) -> majority 2) Mutations in the gene for the E1beta subunit | |
| Laboratory findings | Alanine inc (plasma) Ammonia normal/inc (blood) Ketone bodies (urine) normal/inc (urine) L-Lactic acid normal/inc (blood) L-Lactic acid inc (urine) L-Lactic acid normal/inc (cerebrospinal fluid) Lactate/Pyruvate ratio inc (blood) pH normal/dec (blood) Pyruvate dehydrogenase E1 complex dec (fibroblasts) Pyruvic acid dec (blood) Pyruvic acid inc (cerebrospinal fluid) |
| Symptoms | basal ganglia, changes, lesions, calcifications (MRI, CT) ketosis, ketoacidosis ataxia cardiomegaly cardiomyopathy cerebellar atrophy or hypoplasia corpus callosum, agenesis/hypoplasia developmental delay dysmorphism dystonia early death growth retardation, poor growth hyperammonemia hypotonia infantile spasms intracerebral, cortical or paraventricular cysts lactic acidosis Leigh syndrome lethargy, drowsiness, apathy mental retardation metabolic acidosis microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] muscle weakness onset, childhood onset, infancy onset, neonatal psychomotor retardation ptosis (drooping eyelid) seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) tachypnea, hyperpnea, dyspnea, hyperventilation |