Strasinger AUBF - Metabolic Disorders (Multiple Choice) Questions with Verified Solutions

Strasinger AUBF - Metabolic Disorders (Multiple Choice) Questions with Verified Solutions In all states, newborns must be screened for PKU primarily to facilitate early: - a) Dietary adjustments - b) Antibiotic treatments - c) Diabetes identification - d) Gene therapy initiation Explanation: Early detection of PKU allows for dietary modifications that can prevent the development of symptoms and complications. --- Which of the following conditions is NOT typically identified through newborn screening? - a) Tyrosyluria - b) MSUD - c) Melanuria 2 - d) Galactosemia Explanation: Melanuria, which involves the presence of melanins in urine, is not usually detected through newborn screening, unlike the other listed conditions. --- For the most effective early detection during newborn screening, the ideal sample is: - a) A specific timed urine sample - b) A blood sample - c) A first-morning urine sample - d) A fecal sample Explanation: Blood specimens are preferred for newborn screening as they provide accurate and reliable results for detecting various metabolic disorders. --- 3 Among the following, which condition does NOT fall under the category of overflow disorders in urine screening? - a) Alkaptonuria - b) Galactosemia - c) Melanuria - d) Cystinuria Explanation: Melanuria is not classified as an overflow