Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- Synonyms
- PCK2 DEFICIENCY; PEPCK2 DEFICIENCY
Available tests
32 tests are in the database for this condition.
Clinical tests (32 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Impaired gluconeogenesis
Impaired gluconeogenesis
- MedGen UID: 480966
- Concept ID: C3279336
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoglycemia
- Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Liver failure
Liver failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic steatosis
- Abnormality of the genitourinary system
- Renal steatosis
Renal steatosis
- MedGen UID: 867423
- Concept ID: C4021796
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal steatosis
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.