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Results 1 - 5 of 5 for Adenosine kinase deficiency
  1. PKLR gene 
    ... diphosphate (ADP), resulting in molecules called pyruvate and adenosine triphosphate (ATP). ATP is the cell's main energy source. More than 200 mutations in the PKLR gene have been identified in people with pyruvate kinase deficiency. People with this disorder have two PKLR gene ...
    https://medlineplus.gov/genetics/gene/pklr - Genetics
  2. PGK1 gene 
    ... 3-phosphoglycerate. This reaction generates one molecule of adenosine triphosphate (ATP), which is the ... kinase deficiency. In some affected individuals, this condition causes a ...
    https://medlineplus.gov/genetics/gene/pgk1 - Genetics
  3. Pyruvate kinase deficiency 
    ... Old Order Amish population of Pennsylvania. ... is broken down to produce adenosine triphosphate (ATP), the cell's main energy source. ...
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency - Genetics
  4. PRKAG2 gene 
    ... AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6): ... Hughes S, Elliott PM, Macrae CA, McKenna WJ. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  5. PDP1 gene 
    ... begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source. At least one mutation in the PDP1 gene has been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the PDP1 gene is a very ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics