PKU Acronym Quiz

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Test your PKU knowledge.

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Beatrice Kwarteng

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PKU Acronym Quiz


PKU Acronym QuizVersión en línea Test your PKU knowledge. por Beatrice Kwarteng 1 What does PKU stand for a Phenylketoneuria b Phenylketonuria c Polycystic kidney disease d 2 An infant with PKU who is not on a restriced diet would most likely present which of the following signs? a A mousy or musty odor b Jaundice at birth c Normal developmental growth d Hypoglycaemia e 3 Which neurological symptom is a classic sign of untreated PKU in a child? a Ataxia b Severe intellectual disability c Hyperactivity and short attention span d Seizures 4 A 6 month old infant with untreated PKU is brough to the clinic. Which dermatological finding might be present ? a very light skin and hair b A 'butterfly like rash c Severe acne d Dry, scaly patches on the skin 5 The failure to thrive in an infant with untreated PKU is primarily due to: a The inability to digest lactose in breast milk b The toxic effects of high phenylalanine and its by products c Lack of appetite due to sever nausea d An inherited cardiac abnormality 6 A positive newborn screening for PKU leads to a diagnosis. If the child were to remain undiagnosed and untreated, which of the following would likely be the most severe and irreversible long-term effect ? a Hearing loss b Cerebral Palsy c Severe intellectual disability d Vision impairment 7 In a patient with untreated PKU, what is the most likely reason for microcephaly ( abnormal small headf size)? a A concurrent genetic disorder b Premature closure of the cranial sutures c Reduced cerebospinal fluid produced d Disrupted brain growth due to neurotoxic metabolites 8 A patient is diagnosed with PKU. This diagnosis indicated a deficit in with enzyme, caused by a mutation in a specific gene a Tyrosine Hydroxylase b Phenylalanine decarboxylase c Tyrosinase d Phenylalanine Hydroxylase 9 What is the Primary dietary management strategy for a patient with PKU ? a A diet that is severely restricted in natural protein sources to limit Phenylalanine intake b A diet supplemented with high phenylalanine foods to balance the enzyme deficiency c A diet rich in Tyrosine to compensate for the inability to breakdown Phenylalanine d A diet that focuses on eliminating all carbohydrates and fats Feedback 2 Phenylacetic acid is secreted through the sweat or urine causes bad odor 3 elevated levels of phenylalanine in the braine cause destruction of the myeline protecting nerve fibers. can also cause depression. 4 High levels of Phenylalanine interfere with melanin production 6 Hearing loss and vision loss may be a wider developmental effect but are not necessarily permanent. 8 PAH helps to breakdown phenylalanine 9 Phenyl alanine is an essential amino acid found in a lot of protein

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PKU Acronym Quiz

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PKU Acronym QuizVersión en línea

por Beatrice Kwarteng

What does PKU stand for

An infant with PKU who is not on a restriced diet would most likely present which of the following signs?

Which neurological symptom is a classic sign of untreated PKU in a child?

A 6 month old infant with untreated PKU is brough to the clinic. Which dermatological finding might be present ?

The failure to thrive in an infant with untreated PKU is primarily due to:

A positive newborn screening for PKU leads to a diagnosis. If the child were to remain undiagnosed and untreated, which of the following would likely be the most severe and irreversible long-term effect ?

In a patient with untreated PKU, what is the most likely reason for microcephaly ( abnormal small headf size)?

A patient is diagnosed with PKU. This diagnosis indicated a deficit in with enzyme, caused by a mutation in a specific gene

What is the Primary dietary management strategy for a patient with PKU ?

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