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    • Mutational Analysis
    • Pyridoxine-Induced...
    • Pyridoxine-Induced Photosensitivity and Hypophosphatasia: Influence Statistics

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      Concepts for whichthey havehas direct influence:Mutational analysis,Alkaline phosphatase,Dna mutational,Humans hypophosphatasia,Nonspecific alkaline,Tissue nonspecific.

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      Pyridoxine-Induced Photosensitivity and Hypophosphatasia

      Abstract

      We describe a case of photosensitivity due to pyridoxine hydrochloride (vitamin B(6)) in a heterozygote of hypophosphatasia. Photopatch tests using pyridoxine hydrochloride and pyridoxal 5'-phosphate, compounds referred to as vitamin B(6), with ultraviolet light A irradiation were positive. Laboratory examination showed low serum alkaline phosphatase. Tissue-nonspecific alkaline phosphatase exon amplification from DNA of the patient's lymphocytes detected deletion 1154-1156 hypophosphatasia mutation, indicating that this patient was diagnosed to be a heterozygote of hypophosphatasia. The seric pyridoxal 5'-phosphate level of this patient with hypophosphatasia was higher than in normals. Furthermore, after oral administration of vitamin B(6) this level increased greatly and long-lastingly, and this might be related to the low level of alkaline phosphatase in this patient. Photosensitivity in this patient may have been caused by abnormal metabolism of vitamin B(6) under the hypophosphatic condition.

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