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Results 1 - 10 of 83 for Abnormal metabolism
  1. SRD5A3-congenital disorder of glycosylation 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov;133(11):3210-20. doi: ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  2. SRD5A3 gene 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov;133(11):3210-20. doi: ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  3. ETFDH gene 
    ... are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in ...
    https://medlineplus.gov/genetics/gene/etfdh - Genetics
  4. ETFA gene 
    ... are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in ...
    https://medlineplus.gov/genetics/gene/etfa - Genetics
  5. ETFB gene 
    ... are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in ...
    https://medlineplus.gov/genetics/gene/etfb - Genetics
  6. Carnitine palmitoyltransferase I deficiency 
    ... and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of CPT I deficiency. Conditions that disrupt the metabolism of fatty acids, including CPT I deficiency, are ...
    https://medlineplus.gov/...rnitine-palmitoyltransferase-i-deficiency - Genetics
  7. POR gene 
    ... resulting excess of that molecule can stimulate the abnormal growth and fusion of bones.It is unclear whether mutations in the POR gene affect how the liver processes medications. The role of this enzyme in drug metabolism is an active area of research. More About ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  8. Riboflavin transporter deficiency neuronopathy 
    ... and FMN are also involved in the breakdown (metabolism) of carbohydrates, fats, and proteins.Mutations in the SLC52A2 or SLC52A3 gene lead to an abnormal riboflavin transporter protein with impaired ability to transport ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  9. Barth syndrome 
    Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  10. Warfarin resistance 
    ... rapid metabolizers" of warfarin. The severity of these abnormal processes determines whether the ... Many genes are involved in the metabolism of warfarin and in determining the drug's ...
    https://medlineplus.gov/genetics/condition/warfarin-resistance - Genetics
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