phenylketonuria and newborn screening(All Accurately Solved)

Phenylketonuria correct answers - Causes elevation in blood phenylalanine levels due to very low levels or lack of the enzyme phenylalanine hydroxylase - Most frequently inherited disorder of amino-acid metabolism Most frequently inherited disorder of amino-acid metabolism correct answers Phenyl...

Phenylketonuria is a(n) _______ disorder, meaning that it is passed from generation to generation via DNA. correct answers inherited Inheritance patterns are studied in the field of correct answers Genetics Select all of the following that describes the geneticist, Gregor Mendel? correct answe...

etiology correct answers inborn error of metabolism caused by significantly decreased activity of liver enzyme phenylalanine hydroxylase, resulting in increased blood levels of the amino acid phenylalanine -may also be caused by impaired synthesis or recycling of tetrahydobiopterin (BH4), a neces...

*Undiagnosed phenylketonuria* 1) Failure to to attain early developmental milestones 2) Microcephaly 3) *Progressive impairment of cerebral function* 4) Seizures 5) Hypopigmentation 6) *"Musty odor" of sweat and urine* correct answers Phenylketonuria Dx studies of Phenylketonuria (3) co...

PKU( phenylketonuria) correct answers autosomal reccesive disorder that results that results in CNS damage from toxic levels of phenoalanine in the blood. PKU correct answers with this disorder there is a deficeincy of phenylalanine hydroxylase, the hepatic enzyme needed to convert phenylalanine ...

phenylketonuria (PKU) correct answers monogenic inborn error of metabolism epidemiology of PKU correct answers 1st genetic cause known for intellectual disability that is treated effectively - most common disorder of amino acid metabolism (phenylalanine) - 1/2 million cases, but large regional/...

describe what happens in general in phenylketonuria (enzyme involved, aa involved, etc.) correct answers protein from diet or from breakdown of muscle is metabolized into aa one of these aa, phenylalanine, is converted to tyrosine by the PAH enzyme defective PAH enzyme = accumulation of pheny...

What causes phenylketonuria? i.e., what enzyme is lacking? correct answers Phenylketonuria caused by failure to inherit a gene that produces the enzyme phenylalanine hydroxylase. What abnormal metabolite is present in alkaptonuria? correct answers Homogentisic acid would build up in the tissues, ...

When preparing to obtain a neonatal screening test for phenylketonuria (PKU), the neonate must have received which of the following to ensure reliable results? 1. A feeding of an iron-rich formula. 2. Nothing by mouth for 4 hours before the test. 3. Initial formula or breast milk at least 24 hou...

PKU correct answers ___ aka phenylketonuria. An autosomal recessive gene. results in severe retardation. phenylalanine correct answers ____ is an amino acid, classic PKU is a genetic disorder caused by the faulty metabolism of ___. Essential to life, found in all protein foods. phenylalanine h...

What is phenylketonuria? correct answers an inherited inability to metabolised phenylketonuria which if untreated causes brain and nerve damage what is phenylalanine? correct answers an essential amino acid that when injested is transformed to form tyrosine (used in protein synthesis. too little ...

You're requested to consult on a female newborn whose newborn screen was flagged for elevated phenylalanine. You ordered quantitative plasma amino acid which showed phenylalanine concentration of 1540 µmol/L. Before giving a diagnosis of PKU, which condition should be ruled out? correct answers De...

Autosomal recessive disorder of L-phenylalanine metabolism; Caused by a defect in a single enzyme: phenylalanine hydroxylase (PAH) correct answers what's PKU 1:10,000 worldwide with large national variability correct answers worldwide incidence? Turkey correct answers country with highest pku...

Certain amino acids are "essential" in our diet since correct answers our body cannot construct them from simple components Phenylalanine is one such essential amino acid and is the starting point for correct answers a network of metabolic pathways that produces such important components and th...