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Results 1 - 9 of 9 for Abnormality of mitochondrial metabolism
  1. SLC25A24 gene 
    ... adding or removing phosphate (P) atoms from the mitochondria. This exchange is essential ... females, is characterized by skull abnormalities that affect the shape of the head and ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  2. POLG gene 
    ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48( ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2): ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  3. TYMP gene 
    ... Naini A, Tadesse S, Oliver JA, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. Mitochondrion. 2002 Nov;2(1- ...
    https://medlineplus.gov/genetics/gene/tymp - Genetics
  4. CA5A gene 
    ... and reduces the activity of the four affected mitochondrial enzymes, leading to various biochemical abnormalities that are associated with carbonic anhydrase VA deficiency ...
    https://medlineplus.gov/genetics/gene/ca5a - Genetics
  5. MMADHC gene 
    ... mitochondrial methylmalonic aciduria and homocystinuria type D protein, mitochondrial precursor methylmalonic aciduria and homocystinuria, cblD type MMAD_HUMAN Tests of MMADHC PubMed METABOLISM OF COBALAMIN ASSOCIATED D; MMADHC NCBI Gene ClinVar ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  6. BCS1L gene 
    ... the BCS1L protein is involved in the breakdown (metabolism) of iron, although the mechanism is unknown. At least six BCS1L gene mutations have been found to cause Björnstad syndrome, a condition characterized by a hair abnormality known as pili torti (or "twisted hair") and ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  7. IDH2 gene 
    ... in cancer: alterations at a crossroads of cellular metabolism. J Natl Cancer Inst. 2010 Jul 7;102( ...
    https://medlineplus.gov/genetics/gene/idh2 - Genetics
  8. ALDH18A1 gene 
    ... C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  9. MMACHC gene 
    ... structures that serve as energy-producing centers (the mitochondria), where AdoCbl ... problems, and blood abnormalities. MMACHC gene variants lead to production of an ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics