MEDizzy - Which of the following is an autosomal recessive inherited

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Metabolic medicine

Which of the following is an autosomal recessive inherited disorder, often diagnosed through newborn screening programmes and treated with dietary modification, which can present with wide-ranging clinical manifestations, including vascular disorders, skin hypopigmentation, ectopia lentis, and disorders of the central nervous or skeletal systems?

ExplanationHomocystinuria is inherited in an autosomal recessive manner. It is most commonly caused by loss of function of the cystathionine β-synthase (CBS) gene. This affects the metabolism of the amino acid methionine and causes accumulation of the related amino acids homocysteine and methionine. It is often diagnosed through newborn screening programs. Dietary treatment is available, designed to correct the imbalance in the amino acids caused by the missing enzyme function.