Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 for Pyruvate kinase deficiency
  1. Pyruvate kinase deficiency 
    Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's ...
    https://medlineplus.gov/.../condition/pyruvate-kinase-deficiency - Genetics
  2. PKLR gene 
    ... PKLR gene have been identified in people with pyruvate kinase deficiency. People with this disorder have two PKLR gene ... each cell. Most of the mutations that cause pyruvate kinase deficiency replace single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/pklr - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Nonsyndromic hearing loss Pendred syndrome Phenylketonuria Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. Glucose phosphate isomerase deficiency 
    ... Citation on PubMed Lakomek M, Winkler H. Erythrocyte pyruvate kinase- and glucose phosphate isomerase deficiency: perturbation of glycolysis by structural defects and functional ...
    https://medlineplus.gov/.../glucose-phosphate-isomerase-deficiency - Genetics
  5. GPI gene 
    ... Citation on PubMed Lakomek M, Winkler H. Erythrocyte pyruvate kinase- and glucose phosphate isomerase deficiency: perturbation of glycolysis by structural defects and functional ...
    https://medlineplus.gov/genetics/gene/gpi - Genetics
  6. Pyruvate dehydrogenase deficiency 
    ... turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off ... deficiency, accounting for approximately 80 percent of cases. These ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  7. PDP1 gene 
    ... domains in the activated function and control of pyruvate dehydrogenase kinases and phosphatase isoform 1. Eur J Biochem. 2003 ...
    https://medlineplus.gov/genetics/gene/pdp1 - Genetics