An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report
An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report
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Palmoplantar pigmentation is PRE-WORKOUT ENERGIZER a rare clinical presentation of alkaptonuria, a rare inborn error of phenylalanine and tyrosine metabolism.Alkaptonuria occurs owing to a deficiency of an enzyme homogentisic acid oxidase inherited as an autosomal recessive disorder.We report a case of alkaptonuria, which presented with palmoplantar pigment pigmentary nail changes and the involvement of the spine and joints.He was advised of ascorbic acid along with symptomatic management and Cooling Accessories detailed counselling.