Details of Disease

General Information of Disease (ID: DISOMDLN)

Disease Name Phosphoenolpyruvate carboxykinase deficiency
Synonyms phosphoenolpyruvate carboxykinase (GTP) deficiency; PEPCK deficiency
Definition
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) 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.
Disease Hierarchy
DISNTY2N: Disorder of gluconeogenesis
DISOMDLN: Phosphoenolpyruvate carboxykinase deficiency
Disease Identifiers
MONDO ID
MONDO_0017320
MESH ID
C536654
UMLS CUI
C0268194
MedGen ID
120618
Orphanet ID
2880
SNOMED CT ID
5335002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PCK1 DEPLH5Z Supportive Autosomal recessive [1]
PCK1 DEPLH5Z Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCK1 OTNWEJ5Y Supportive Autosomal recessive [1]
PCK2 OTJ8LX4N Supportive Autosomal recessive [3]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2 Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6.
3 Mitochondrial phosphoenolpyruvate carboxykinase deficiency. Eur J Pediatr. 1991 Jan;150(3):198-9. doi: 10.1007/BF01963566.