Visit Metagene.de!
Summary
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1, CYTOSOLIC (PEPCK1)
PEPCK-C PEPCK1 DEFICIENCY, CYTOSOLIC
261680
OMIM = Online Medalian Inheritance of Men
2880
20q13.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
very rare
autosomal recessive
- cytosolic form (OMIM 261680)
- mitochondrial form (OMIM 261650)
symptoms
apnea
cerebral atrophy
cyanosis
early death
hypoglycemia
liver failure
onset, infancy
onset, neonatal
optic atrophy
seizures
laboratory finding
EEG abnormalities - ---
L-Lactic acid increasedblood
Literature
Cederloef M,et al.Acute intermittent porphyria: comorbidity and shared familial risks with schizophrenia and bipolar disorder in SwedenBr J Psychiatry2076556-5572015
Garci-ía-Morillo JS,Gonzalez-Estrada A, Rodriguez-Suarez SInfluence of long-term treatment with hemin in the development of chronic renal failure in acute intermittent porphyriaMed Clin (Barc)1468373-3742015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Garone C,Tadesse S, Hirano MClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyBrain134113326-33322011
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996