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Results 1 - 10 of 19 for Acidemia
  1. ACADSB gene 
    The ACADSB gene provides instructions for making an enzyme called short/branched chain acyl-CoA dehydrogenase (SBCAD, also known as 2-methylbutyryl-CoA dehydrogenase), ...
    https://medlineplus.gov/genetics/gene/acadsb - Genetics
  2. IVD gene 
    ... gene have been identified in people with isovaleric acidemia. Some of these mutations disrupt the normal function ... accumulation of isovaleric acid causes people with isovaleric acidemia to have a characteristic odor of sweaty feet. ...
    https://medlineplus.gov/genetics/gene/ivd - Genetics
  3. GCDH gene 
    ... than 150 GCDH gene mutations that cause glutaric acidemia type I have been reported in populations around ... the Old Order Amish community, all known glutaric acidemia type I cases derive from the replacement of ...
    https://medlineplus.gov/genetics/gene/gcdh - Genetics
  4. MMUT gene 
    ... gene have been identified in people with methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, ... tissues, causing the signs and symptoms of methylmalonic acidemia.Mutations that prevent the production of any functional ...
    https://medlineplus.gov/genetics/gene/mmut - Genetics
  5. MMAA gene 
    ... MMAA gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, ... to the serious medical problems associated with methylmalonic acidemia. Studies suggest that without the activity of this ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  6. PCCB gene 
    ... gene have been identified in people with propionic acidemia, a condition that causes severe health problems appearing ... causing the serious health problems associated with propionic acidemia. More About This Health Condition PCCase beta subunit ...
    https://medlineplus.gov/genetics/gene/pccb - Genetics
  7. PCCA gene 
    ... gene have been identified in people with propionic acidemia, a condition that causes severe health problems appearing ... causing the serious health problems associated with propionic acidemia. More About This Health Condition PCCA_HUMAN PCCase ...
    https://medlineplus.gov/genetics/gene/pcca - Genetics
  8. MMAB gene 
    ... MMAB gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, ... tissues, causing the signs and symptoms of methylmalonic acidemia. More About This Health Condition ATP:Cob(I) ...
    https://medlineplus.gov/genetics/gene/mmab - Genetics
  9. HCFC1 gene 
    ... mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form ... leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Neurological and developmental problems are especially ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  10. PRDX1 gene 
    ... in the PRDX1 gene are involved in methylmalonic acidemia with homocystinuria, epi-cblC type (shortened to epi- ... leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. Research suggests that PRDX1 gene variants ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
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