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Results 1 - 7 of 7 for Amino acid or protein metabolism disease with epilepsy
  1. POLG gene 
    ... MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal ... in MEMSA change single amino acids in the alpha subunit of pol γ. These ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  2. HSD10 disease 
    ... 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- ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  3. Asparagine synthetase deficiency 
    ... 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 ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  4. FOLR1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  5. Guanidinoacetate methyltransferase deficiency 
    ... production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  6. Alpers-Huttenlocher syndrome 
    ... 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- ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  7. Myoclonic epilepsy myopathy sensory ataxia 
    ... 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- ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics