Phosphoenolpyruvate carboxykinase (GTP) deficiency

Synonyms: PEP carboxykinase deficiency; PEPCK 1 deficiency; Phosphoenolpyruvate Carboxykinase Deficiency; Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency; Phosphoenolpyruvate carboxylase deficiency; Phosphopyruvate carboxylase deficiency

Summary

A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. [from ORDO]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

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Clinical resources

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