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Phosphoenolpyruvate carboxykinase deficiency, mitochondrial(PCKDM)

MedGen UID:
376665
Concept ID:
C1849821
Disease or Syndrome
Synonyms: PCK2 DEFICIENCY; PEPCK2 DEFICIENCY
 
Gene (location): PCK2 (14q11.2-12)
 
Monarch Initiative: MONDO:0009864
OMIM®: 261650

Clinical features

From HPO
Renal steatosis
MedGen UID:
867423
Concept ID:
C4021796
Disease or Syndrome
Abnormal fat accumulation in the kidneys.
Liver failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Impaired gluconeogenesis
MedGen UID:
480966
Concept ID:
C3279336
Finding
An impairment of gluconeogenesis.

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