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Results 1 - 10 of 12 for Amino acid or protein metabolism disease with epilepsy
  1. ... MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal ... in MEMSA change single amino acids in the alpha subunit of pol γ. These ...
  2. ... have additional features of this condition, such as epilepsy, movement problems, and hearing loss. ... instructions for making the HSD10 protein. This protein is located within mitochondria, the energy- ...
  3. ... DNA replication.Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol γ. These ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
  4. ... cells throughout the body, where it converts the protein building block (amino acid) aspartic acid to the amino acid asparagine.In addition to being a component of proteins, asparagine helps to break down toxic ammonia within ...
  5. ... age 2. Most of these mutations change single protein building blocks (amino acids) in folate receptor alpha. FOLR1 gene mutations result in a lack of protein or malfunctioning protein. Without folate receptor alpha in ...
  6. ... production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls ...
  7. ... DNA replication.Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol γ. These ... Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59- ...
  8. Brain Facts: Glossary (Society for Neuroscience)  
    Brain Diseases/Reference Desk ... Brain Diseases ... Society for Neuroscience
  9. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Mitochondrial Diseases/Specifics
  10. Kearns-Sayre Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Institute of Neurological Disorders and Stroke ... Mitochondrial ...
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