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Results 1 - 8 of 8 for aspartate
  1. Asparagine synthetase deficiency 
    ... it converts the protein building block (amino acid) aspartic acid to the amino acid asparagine.In addition to ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  2. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... plays a role in adding the amino acid aspartic acid at the proper place in mitochondrial proteins.Mutations ... synthetase enzyme activity, which hinders the addition of aspartic acid to mitochondrial proteins. It is unclear how the ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  3. Citrullinemia 
    ... hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of ... Citation on PubMed Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of ...
    https://medlineplus.gov/genetics/condition/citrullinemia - Genetics
  4. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... plays a role in adding the amino acid aspartate at the proper place in proteins.Mutations in ... synthetase enzyme activity, which hinders the addition of aspartate to proteins. It is unclear how the DARS1 ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  5. Multiple familial trichoepithelioma 
    ... mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity. ...
    https://medlineplus.gov/.../multiple-familial-trichoepithelioma - Genetics
  6. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... T, Chapman S, Pope FM. A glycine to aspartic acid substitution of COL2A1 in a family with the ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  7. Epidermolytic hyperkeratosis 
    ... ES, Steinert PM. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  8. Canavan disease 
    ... breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics