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Phenylketonuria is the most common clinically encountered inborn error of metabolism of amino acid metabolism. Early diagnosis and management are crucial to prevent mental retardation. Learn more on diagnostics and screening tests at our Laboratory Decision System - https://app.medicaldatabase.com/site/diseases/559e25c6-c1b6-4c55-8f48-f39336994ebe | Medical Database
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Yun fong | NCLEX備考日記🍁 on Instagram: "🎯 主題：Phenylketonuria (PKU，苯尿酮症) 🔍 Phenylketonuria is an autosomal recessive metabolic disorder caused by deficiency of phenylalanine hydroxylase, leading to accumulation of phenylalanine and toxic metabolites. （苯尿酮症是一種自體隱性遺傳代謝疾病，因缺乏苯丙胺酸羥化酶，導致苯丙胺酸及其毒性代謝物在體內累積） 🚨 臨床表現（Clinical manifestations） 🧠 Intellectual disability if untreated（未治療會智能障礙） 👃 Musty / mousy odor（霉味或鼠味） 🤮 Poor feeding, vomiting, irritability（餵食不良、嘔吐、易躁動） 🎨 Fair skin & light hair & Blue ey
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