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Summary
PYRUVATE DEHYDROGENASE DEFICIENCY (E1) PDC
PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA
312170
OMIM = Online Medalian Inheritance of Men
79243
Xp22.12
  • dichloroacetate
  • ketogenic diet
  • low-carbohydrate diet
  • vitamin B1 (thiamine)
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
symptoms
ataxia
basal ganglia, changes
brain, cortical or paraventricular cysts
cardiomegaly
cardiomyopathy
cerebellar atrophy or hypoplasia
corpus callosum, agenesis/hypoplasia
developmental delay
dysmorphism
dystonia
early death
growth retardation
hypotonia
infantile spasms
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
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, respiratory distress
laboratory finding
Pyruvic acid0.100.3027.00160.00-Ámol/lblood
Pyruvic acid 0.00102.00-Ámol/lcerebrospinal fluid
L-Lactic acid100.0075000.003.5029.30mmol/mol creatinineurineadult
L-Lactic acid1.7012.000.502.10mmol/lcerebrospinal fluid
L-Lactic acid1.006.000.901.80mmol/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
Alanine increasedplasma
Ammonia increasedblood
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