Keton Samenvattingen, Aantekeningen en Examens

Presentation pf PKU correct answers Developmental delay Microcephaly Eczema Unusual smell Enzyme affected in PKU correct answers Lack of phenylalanine hydroxylase Most common inborn error in protein metabolism correct answers PKU What is elevated in PKU correct answers Phenylalanine Why is phenylalanine raised in PKU correct answers PAH deficiency Cofactor deficiency BH4 Liver disease Galactosaemia Heritability of PKU correct answers AR Chromosome involved in PKU correct ...

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 slows physical and intellectual growth but too much is toxic) What does teratogenic mean? correct answers relating to or causing developmental malformations What is microcephaly? correct answers...

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 necessary cofactor for phenylalanine hydroxylase clinical features in children correct answers severe intellectual disability, seizures, irritability, musty odor, eczema clinical features in older ch...

Ruim voldoende. Graag naam en datum veranderen i.v.m plagiaat

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 hours before the test. 4. A feeding of glucose water. correct answers 3. PKU is an autosomal recessive disorder involving the absence of an enzyme needed to metabolize the essential amino acid, phenylal...

NUR 2571 Professional Nursing II PN2 Final The nurse assesses a client who has myasthenia gravis. Which clinical manifestation does the nurse expect to observe in this client?  Muscle weakness that worsens with use and improves with test a client being treated for a spinal cord injury needs immediate ventilator support. The nurse realizes that this client's level of injury is most likely?  C3 the nurse intends to participate in a health scre...

autosomal recessive correct answers PKU is an ______ _______ disorder phenylalanine hydroxylase correct answers PKU is caused by the inactivation of the enzyme _______ _______ normal correct answers individuals affected by PKU are ______ at birth phenylalanine correct answers accumulation of ______ overtime can be toxic to neuron cells 12; 5' splice' exon 12; 156 bp correct answers PKU (one nucleotide mutation): GT-->AT mutation at intron _____; _____ site becomes unrecognizable...

"Phenylketonuria" is what type of disease? correct answers "Autosomal recessive disease " "Phenylketonuria" incidence ratio is? correct answers 1 in 10,000 (1:10,000) "Phenylketonuria" most common "amino acid metabolism error" in what age group? correct answers Inborn "Phenylketonuria" deficiency is due to? {"Phenylketonuria Pathophysiology"} correct answers "Phenylalanine hydroxylase (PAH) enzyme" "Phenylalanine Hydroxylase (PAH)" enzyme deficiency , how does it af...

Scheikunde (SK) Boek: Chemie Overal Niveau: vwo bovenbouw Hoofdstuk: hoofdstuk 11, redoxreacties Dit is een handige samenvatting over hoofdstuk 11 van het boek Chemie Overal (5de editie). Onderwerpen die in deze samenvatting worden genoemd zijn: redoxreacties, (opstellen van) halfreacties, keton en redoxtitraties. De begrippen zijn dikgedrukt.

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 hydrolase correct answers hepatic enzyme which is needed to convert phenylalanine into tyrosine. phenylalanine accumulates in blood. Phenylpyruvic acid appears in urine. musty odor correct answers i...