PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (PEPCK2)

Question 1

What is  PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (PEPCK2)?

Accepted Answer

very rare
autosomal recessive
- cytosolic form (OMIM 261680)
- mitochondrial form (OMIM 261650)
very rare as cause of lactic acidemia

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Phosphoenolpyruvat-Carboxykinase-Mangel; PEPCK2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261650

Question 4

Which enzymes are involved?

Accepted Answer

phosphoenolpyruvate carboxykinase, mitochondrial

Disease	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (PEPCK2)
Synonym	PEPCK-M; PEPCK2 DEFICIENCY
OMIM	261650 OMIM = Online Mendelian Inheritance of Men
Orphanet	2880
Protein (UniProt)	phosphoenolpyruvate carboxykinase, mitochondrial
ExPASy	4.1.1.32
Gene locus	14q11-q12
ICD	E74.4
Summary	very rare autosomal recessive - cytosolic form (OMIM 261680) - mitochondrial form (OMIM 261650) very rare as cause of lactic acidemia
Laboratory findings	Cholesterol dec (serum) D-Glucose dec (serum) L-Lactic acid inc (blood) Lactate/Pyruvate ratio inc (blood) Phosphoenolpyruvate carboxykinase dec (fibroblasts) Pyruvic acid inc (blood) Triglycerides inc (serum)
Symptoms	cardiomyopathy coma early death failure to thrive Fanconi syndrome fever hepatomegaly (large liver) hypoglycemia hypotonia lactic acidosis lethargy, drowsiness, apathy liver involvement or dysfunction liver, fatty mental retardation onset, infancy onset, neonatal seizures tubulopathy