Inborn Error Flashcards
Phenylalanine is …AA but tyrosine is….AA
Essential
Non essential
Phenylalanine converted to tyrosine by …. Enzyme Need …….
Phenylalanine hydroxylase
Tetrahydrobiopterin
Dihydrobiopterin converts to tetrahydrobiopterin by ….. Enzyme and need ….
Dihydrobiopterin reductase
NADPH+H
Phenylketonuria is caused by….
Deficiency in
Phenylalanine hydroxylase
dihydrobiopterin reductase
Dihydrobiopterin biosynthesis
Tyrosine used in …..
Protein synthesis
Melanin formation
Catecholamine synthases
Fumarate , acetoacetate
Cause of mental retardation in patient with phenylketonuria
⏬ catecholamine synthases in brain
⏫ Toxic metabolites to brain function like phenylpyrovate ,phenylacetate ,
phenyllactate
Depigmentation caused by ….. In phenylketonuria
⏬tyrosine synthesis
⏬Melanine formation from tyrosine
Musty urea cause by ……in phenylketonuria
⏫toxic metabolites like phenylpyrovate ,phenylacetate ,
phenyllactate
Treatment of phenylketonuria
⏬ phenylalanine in diet “milk free pA”
⏫ tyrosine in diet
⏫DOPA and seritonin in DHB deficiency
steps Branched AA to degradated
Transamination
Oxiditive decarboxylation
Dehydrogenation
Leucine give … metabolites
Acetoacetate+acetylcoA
Valine give …… Metabolites
Propionyl coA
Scuccinyl coA
Isoleucine give … Metabolites
Propionyl coA
Scuccinyl coA
AcetylcoA
Malple syrup urine disease caused by …lead to accumulation of ….
Deficency of dehydrogenase complex “oxcidtive decarboxylation”
Branced AA and alpha keto acid
Urine is sweet smell like marple syrup because of accommulation of ….
Isoleucine
