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- Title
An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report.
- Authors
Qureshi, Umar Abdul Ali; Malik, Naveed Akhtar
- Abstract
Palmoplantar pigmentation is 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 detailed counselling.
- Subjects
SYMPTOMS; ENZYME deficiency; VITAMIN C; PHENYLALANINE; COUNSELING; PALMOPLANTAR keratoderma
- Publication
Pakistan Armed Forces Medical Journal, 2023, Vol 73, Issue 6, p1735
- ISSN
0030-9648
- Publication type
Case Study
- DOI
10.51253/pafmj.v73i6.9174