Clinical Pearl-Square doc BY, Rupjit Banik Clinical Pearl : 14 A 5-years old boy presents with mental retardation. His skin and hair is abnormally light coloured. Thinking of Vitiligo? Please check the body odour. If they impart a strong musty or mousy body odour, may be you're dealing with a case of Phenylketonuria. Explanation : Phenylketonuria is an autosomal dominant disease where there is mutation of the gene that codes for Phenylalanine hydroxylase (PAH). This enzyme converts the Phenylalanine into Tyrosine which is a precursor of Melanin synthesis. So, PAH deficiency leads to decreased Tyrosine leading to decreased Melanin synthesis. So, light colour of skin and hair. On the other hand, increased Phenylalanine level causes Mental retardation. It is also excreted through sweat and urine causing strong musty or mousy odour. Subscribe করুন Youtube Channel Square Doc (Bangla Medical Tutorials) . Clinical Pearl : 15 Early morning generalize...
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