Hawkinsinuria (HWKS)

Alias:

4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency

4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency

4-Hppd Deficiency

Hwks

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hawkinsinuria, also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, is related to tyrosinemia and tyrosinemia, type iii. An important gene associated with Hawkinsinuria is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include breast, and related phenotypes are failure to thrive and sparse hair

Related ID：

MALACARDS：HWK001

OMIM：140350

MESH：C535845