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Results 1 - 10 of 80 for "Acidosis," metabolic
  1. Renal tubular acidosis with deafness 
    Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products ...
    https://medlineplus.gov/.../renal-tubular-acidosis-with-deafness - Genetics
  2. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  3. SLC4A1-associated distal renal tubular acidosis 
    SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the ...
    https://medlineplus.gov/...-associated-distal-renal-tubular-acidosis - Genetics
  4. Pyruvate carboxylase deficiency 
    ... buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to ... difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without ...
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency - Genetics
  5. GRACILE syndrome 
    ... features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.In GRACILE syndrome, growth before ... chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  6. Myopathy with deficiency of iron-sulfur cluster assembly enzyme 
    ... symptoms of the condition. Hereditary myopathy with lactic acidosis HML Iron-sulfur cluster deficiency myopathy Myoglobinuria due ... type Genetic Testing Registry: Hereditary myopathy with lactic acidosis due to ISCU deficiency National Organization for Rare ...
    https://medlineplus.gov/...cy-of-iron-sulfur-cluster-assembly-enzyme - Genetics
  7. Pyruvate dehydrogenase deficiency 
    ... potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, ... lactic acid. The excess lactic acid causes lactic acidosis in affected individuals. In addition, the production of ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  8. 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
  9. 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
  10. 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
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