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Results 1 - 9 of 9 for Pyridoxine
  1. Pyridoxine-dependent epilepsy 
    Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  2. PNPO gene 
    ... two forms of vitamin B6 obtained from food (pyridoxine and pyridoxamine) to create pyridoxal 5'-phosphate (PLP). ... pyridoxal 5-prime-phosphate synthetase pyridoxamine-phosphate oxidase pyridoxine 5'-phosphate oxidase Tests of PNPO PubMed PYRIDOXAMINE ...
    https://medlineplus.gov/genetics/gene/pnpo - Genetics
  3. Pyridoxal phosphate-responsive seizures 
    ... of vitamin B6: pyridoxal 5'-phosphate (PLP) or pyridoxine. If untreated, people with this condition can develop ... though seizures can be controlled with PLP or pyridoxine, people with PNPO deficiency may still experience neurological ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  4. X-linked sideroblastic anemia 
    ... anemia X chromosome-linked sideroblastic anemia X-linked pyridoxine-responsive sideroblastic anemia XLSA Genetic Testing Registry: X- ... ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy ...
    https://medlineplus.gov/.../condition/x-linked-sideroblastic-anemia - Genetics
  5. ALDH7A1 gene 
    ... the ALDH7A1 gene have been found to cause pyridoxine-dependent epilepsy. Most of these mutations are specific ... as Glu399Gln or E399Q). All mutations that cause pyridoxine-dependent epilepsy produce a nonfunctional antiquitin protein. A ...
    https://medlineplus.gov/genetics/gene/aldh7a1 - Genetics
  6. Gyrate atrophy of the choroid and retina 
    ... NG, Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 1999 ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  7. OAT gene 
    ... NG, Inana G. Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. Ophthalmic Genet. 1999 ...
    https://medlineplus.gov/genetics/gene/oat - Genetics
  8. Homocystinuria 
    ... FJ, Wildgoose J, Zweers H. Dietary practices in pyridoxine non-responsive homocystinuria: a European survey. Mol Genet ...
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  9. ALAS2 gene 
    ... May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 1998 ...
    https://medlineplus.gov/genetics/gene/alas2 - Genetics