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Summary
PYRUVATE DEHYDROGENASE DEFICIENCY (E1)
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA
312170
OMIM = Online Medalian Inheritance of Men
765
Xp22.2-p22.1
  • dichloroacetate
  • ketogenic diet
  • low-carbohydrate diet
  • vitamin B1 (thiamine)
rare 1/250000 (~100 cases) 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
symptoms
ataxia
basal ganglia, changes
brain, cortical or paraventricular cysts
cardiomegaly
cardiomyopathy
cerebellar atrophy or hypoplasia
corpus callosum, agenesis/hypoplasia
dysmorphism
dystonia
early death
growth retardation
hypotonia
infantile spasms
lactic acidosis
mental retardation
metabolic acidosis
microcephaly
motor retardation
muscle weakness
onset, child
onset, newborn
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Pyruvate, Pyruvic acid0.100.3027.00160.00-Ámol/lblood
Pyruvate, Pyruvic acid 0.00102.00-Ámol/lspinal fluid
Lactate100.0075000.000.0025.00mmol/mol creatinineurineadult
Lactate1.7012.000.502.10mmol/lspinal fluid
Lactate1.006.000.901.80mmol/lblood
Lactate/Pyruvate ratio0.0020.0011.0018.00no unitblood
Pyruvate dehydrogenase E1 complex2.0040.00 100.00% of normalfibroblasts
MRI, brain, abnormalities -
pH 7.357.45normal/decreasedblood
Literature
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