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Summary
PYRUVATE CARBOXYLASE DEFICIENCY
LACTIC ACIDEMIA WITHOUT HYPOXEMIA, LEIGH SYNDROME
266150
OMIM = Online Medalian Inheritance of Men
3008
11q13.2
  • aspartate
  • citrate
  • high-carbohydrate diet
  • sodium bicarbonate
rare (1/250000)
autosomal recessive
mutation in the pyruvate carboxylase gene
type A: milder form, presents in the first few months of life with mild lactic acidemia as the only laboratory finding type B: severe form, starts soon after birth with the laborytory findings given, prognosis is very poor
type C: (one case), very mild form with episodic acidosis
symptoms
abnormal movement
Amino acids, plasma
ataxia
developmental delay
early death
encephalopathy
eye movements, abnormal
failure to thrive
hepatomegaly (large liver)
hydrocephalus
hyperammonemia
hypoglycemia
hypotonia
irritability
ketosis, ketoacidosis
lactic acidosis
leukoencephalopathy
mental retardation
metabolic acidosis
onset, infancy
onset, neonatal
Organic acids, urine
psychomotor retardation
renal tubular acidosis
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Pyruvic acid0.602.2027.00160.00-Ámol/lblood
Ammonia20.00200.0025.0080.00-Ámol/lblood
Citrulline100.00300.007.0050.00-Ámol/lplasmanewborn
L-Lactic acid1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Lactate/Pyruvate ratio20.0060.0012.0018.00no unitblood
3-Hydroxybutyrate/Acetoacetate 1.402.60increasedblood
Thiamine pyrophosphate 50.00152.00increasedurine
Succinic acid 5.3046.30increasedurine
Fumaric acid0.000.000.201.70increasedurineadult
Proline 90.00270.00normal/increasedplasma
Ketone bodies +/++/+++urine
Alanine 143.00439.00increasedplasma
D-Glucose 3.305.50normal/decreasedblood
Pyruvate carboxylase decreased activityfibroblasts
Pyruvate carboxylase decreased activityleucocytes
MRI, brain, abnormalities -
L-Lactic acid0.000.00 increasedurineno data
Proline0.000.00 increasedurineno data
Alanine0.000.00 increasedurineno data
3-Hydroxybutyric acid0.000.00 increasedurineno data
Acetone0.000.00 increasedurineno data
L-Lysine increasedplasma
Literature
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