PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1, CYTOSOLIC (PEPCK1)

Question 1

What is  PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1, CYTOSOLIC (PEPCK1)?

Accepted Answer

very rare
autosomal recessive
mutation in the PCK1 gene
- cytosolic form (OMIM 261680)
- mitochondrial form (OMIM 261650)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Phosphoenolpyruvat-Carboxykinase-Mangel; PEPCK1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261680

Question 4

Which enzymes are involved?

Accepted Answer

phosphoenolpyruvate carboxykinase, cytosolic [GTP]

Disease	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1, CYTOSOLIC (PEPCK1)
Synonym	PEPCK-C; PEPCK1 DEFICIENCY, CYTOSOLIC
OMIM	261680 OMIM = Online Mendelian Inheritance of Men
Orphanet	2880
Protein (UniProt)	phosphoenolpyruvate carboxykinase, cytosolic [GTP]
ExPASy	4.1.1.32
Gene locus	20q13.31 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Phosphoenolpyruvate carboxykinase-1 (soluble)
ICD	E74.4
Summary	very rare autosomal recessive mutation in the PCK1 gene - cytosolic form (OMIM 261680) - mitochondrial form (OMIM 261650)
Laboratory findings	Ammonia normal/inc (blood) D-Glucose normal/dec (serum) L-Lactic acid inc (serum)
Symptoms	apnea cerebral atrophy cyanosis early death EEG abnormalities [-] hypoglycemia lactic acidosis liver failure onset, infancy onset, neonatal optic atrophy seizures