| PYRUVATE CARBOXYLASE DEFICIENCY (PC) | |
| LACTIC ACIDEMIA WITHOUT HYPOXEMIA, LEIGH SYNDROME | |
|
266150
OMIM = Online Mendelian Inheritance of Men | |
|
3008 | |
| Pyruvate carboxylase, mitochondrial | |
| 6.4.1.1 | |
| 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 | |
| Laboratory findings | Citrulline inc (plasma) Alanine inc (plasma) Ammonia normal/inc (blood) D-Glucose normal/dec (blood) Ketone bodies (urine) inc (urine) L-Lactic acid increased (blood) Lactate/Pyruvate ratio inc (blood) Pyruvic acid dec (blood) 3-Hydroxybutyrate/Acetoacetate inc (blood) 3-Hydroxybutyric acid inc (urine) Acetone inc (urine) Alanine inc (urine) Fumaric acid inc (urine) L-Lactic acid inc (urine) L-Lysine inc (plasma) pH dec (blood) Proline normal/inc (plasma) Proline inc (urine) Pyruvate carboxylase dec (fibroblasts) Pyruvate carboxylase dec (leucocytes) Succinic acid inc (urine) |
| Symptoms | hyperammonemia hypoglycemia ketosis, ketoacidosis lactic acidosis ataxia developmental delay dystonia failure to thrive hypokinesia hypotonia Parkinsonism pyramidal signs seizures tremor or twitching vomiting abnormal movement Amino acids, plasma early death encephalopathy eye movements, abnormal hepatomegaly (large liver) hydrocephalus irritability leukoencephalopathy mental retardation metabolic acidosis MRI, brain, abnormalities [-] onset, infancy onset, neonatal Organic acids, urine psychomotor retardation renal tubular acidosis small for gestational age (SGA), intrauterine growth retardation (IUGR) strokelike episodes tachypnea, hyperpnea, dyspnea, hyperventilation |