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Summary
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (PEPCK2)
PEPCK-M PEPCK2 DEFICIENCY
261650
OMIM = Online Medalian Inheritance of Men
2880
14q11-q12
  • cornstarch, uncooked
  • glucose infusion (acute)
  • sodium bicarbonate
very rare
autosomal recessive
- cytosolic form (OMIM 261680)
- mitochondrial form (OMIM 261650)
very rare as cause of lactic acidemia
symptoms
cardiomyopathy
coma
early death
failure to thrive
Fanconi syndrome
fever
hepatomegaly (large liver)
hypoglycemia
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
liver, fatty
mental retardation
onset, infancy
onset, neonatal
seizures
tubulopathy
laboratory finding
L-Lactic acid2.006.000.901.80mmol/lblood
D-Glucose2.003.003.305.50mmol/lserum
Pyruvic acid 13.0043.00increasedblood
Lactate/Pyruvate ratio5.0020.0011.0018.00no unitblood
Cholesterol 1.804.50decreasedserum
Triglycerides 30.0099.00increasedserum
Phosphoenolpyruvate carboxykinase0.0010.00 100.00% of normalfibroblasts
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
Simmonds HAet al.Hereditary xanthinuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201781-17951995
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rosenblatt DSInherited disorders of folate transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203111-31281995
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