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Author: Dr:jehad

By Dr:jehad July 23, 2026

Ochronosis = التمعر

Ochronosis = التمعر  ALKAPTONURIA      (ochronosis).     Alkaptonuria , or homogentisic acid oxidase (HGO) deficiency, is a rare metabolic disorder. Excessive homogentisic acid (HGA) is excreted in the urine, which often turns dark, and HGA accumulates in connective tissues, including the dermis49 (ochronosis). Epidemiology Alkaptonuria is inherited as an autosomal recessive trait. Pedigrees suggestive […]

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By Dr:jehad July 23, 2026

Oculocutaneous albinism = النصوع العيني الجلدي

Oculocutaneous albinism = النصوع العيني الجلدي Albinism -and Other   Genetic Disorders of    Pigmentation   Epidemiology of Albinism Oculocutaneous albinism (OCA) is the most common inherited disorder of generalized hypopigmentation, with an estimated frequency of 1 in 20,000 in most populations. Four different types of OCA have been described. OCA types 1 and 2 […]

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