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All of the following are presentations and manifestations of in-born errors of metabolism except

A. Precocious puberty

B. Myocardial infarction

C. Thrombocytopenia

D. Reduced spleen

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1 Answer

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The correct option is D. Reduced spleen

A. Precocious puberty – Some metabolic disorders (e.g., congenital adrenal hyperplasia) can lead to early puberty due to enzyme deficiencies affecting steroid metabolism.

B. Myocardial infarction – Certain metabolic disorders (e.g., homocystinuria, familial hypercholesterolemia) can cause premature atherosclerosis, leading to early heart attacks.

C. Thrombocytopenia – Some IEMs, such as Gaucher disease or methylmalonic acidemia, can lead to hematological abnormalities, including low platelet counts.

D. Reduced spleen – While some metabolic disorders can lead to splenomegaly (enlarged spleen) due to storage diseases (e.g., Gaucher disease, Niemann-Pick disease), a reduced spleen (as in congenital asplenia or autosplenectomy) is not a typical manifestation of inborn errors of metabolism.

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