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Summary
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1 (PEPCK1)
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
cerebral atrophy
early death
hypoglycemia
liver failure
onset, neonatal
optic atrophy
laboratory finding
Literature
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
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