15.下列新生兒篩檢的疾病，何者與脂肪酸代謝有關？A.苯酮尿症（phenylketonuria）B.高胱胺酸尿症（homocystinuria）C.楓糖尿症（maple syrup urine disease）D.中鏈醯基輔酶A去氫酶缺乏症（medium-chain acyl-CoA dehydrogenase deficiency, MCAD）答案為D 解析

A 4 years old child was brought to Pediatric OPD with complaints of poor feeding, psychomotor delay and smell of burnt sugar in urine. After thorough investigation, he was diagnosed with Maple Syrup Urine Disease. The diet of this child should be low in the following amino acids content:Select one:a. Tryptophanb. Leucinec. Methionined. PhenylalanineClear my choice

Get tips through StudyGPTQuestion textIf not treated phenylketonuria leads to a build up of which of the following chemicals?Select one:a. glycogenb. tyrosinec. fatty acidsd. phenylalanine

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme involved in β-oxidation and is encoded by the autosomal ACADM gene.  MCAD deficiency is caused by a mutation in ACADM and results in impaired ability to digest medium-chain fatty acids for energy and in their subsequent accumulation.  Which of the following interventions would best relieve the negative effects of MCAD deficiency?A.Mitochondrial gene therapyB.Supplementation with long-chain fatty acidsC.Prolonged periods of fastingD.A high-carbohydrate, low-fat diet

A full-term infant boy is delivered without complications andhas normal APGAR scores. Routine newborn screening tests revealelevated levels of phenylalanine in his blood, leading to a diagnosisof phenylketonuria (PKU). What is the likely outcome if a dietaryintervention with restricted intake of high-protein foods is notinitiated by the age of 3 weeks?A. Development of cholestasisB. Development of neonatal seizuresC. Malformation of the enteric nervous systemD. AutismE. Profound intellectual disability

In humans, the disease phenylketonuria is inherited through a recessive gene. A phenotypically normal couple produced one normal child and one phenylketonuric child (i) Using symbol A for normal gene and a for phenylketonuric gene, write down the genotypes of the parents (ii) Work out the possible genotype of the normal child