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Results 1 - 10 of 32 for "Acidosis," metabolic
  1. ATP6V1B1 gene 
    ... have been identified in people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by changes ...
    https://medlineplus.gov/genetics/gene/atp6v1b1 - Genetics
  2. SLC4A1 gene 
    ... found to cause SLC4A1-associated distal renal tubular acidosis, a kidney (renal) disorder that leads to the buildup of acid in the blood (metabolic acidosis). Some people with this condition also have blood ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  3. ATP6V0A4 gene 
    ... have been identified in people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by changes ...
    https://medlineplus.gov/genetics/gene/atp6v0a4 - Genetics
  4. SUCLG1 gene 
    ... of the condition known as fatal infantile lactic acidosis. Children with this condition usually live only a ... birth. The mutation responsible for fatal infantile lactic acidosis deletes a small amount of genetic material from ...
    https://medlineplus.gov/genetics/gene/suclg1 - Genetics
  5. MT-TH gene 
    ... people with the features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) have a mutation ... tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS). Mitochondrion. 2011 Sep; ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  6. MT-TV gene 
    ... a very rare cause of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Most cases of ... G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neurology. 1998 Jan;50( ...
    https://medlineplus.gov/genetics/gene/mt-tv - Genetics
  7. DLD gene 
    ... buildup of lactic acid in the tissues (lactic acidosis), neurological problems, and liver disease.Most DLD mutations ... chemical reaction to lactic acid, contributing to lactic acidosis in affected individuals. Impairment of αKGDH leads to ...
    https://medlineplus.gov/genetics/gene/dld - Genetics
  8. PDHB gene 
    ... chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems. These mutations change ... another chemical reaction, to lactic acid, causing lactic acidosis. In addition, the production of cellular energy is ...
    https://medlineplus.gov/genetics/gene/pdhb - Genetics
  9. PDHA1 gene 
    ... chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems. Dozens of PDHA1 ... another chemical reaction, to lactic acid, causing lactic acidosis. In addition, the production of cellular energy is ...
    https://medlineplus.gov/genetics/gene/pdha1 - Genetics
  10. BOLA3 gene 
    ... chemical called lactic acid in the body (lactic acidosis). These babies usually do not survive past infancy. ... alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
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