NPTE - Metabolic and Endocrine Questions with
Detailed Verified Answers
key fn of metabolic system Ans: metabolism
energy for the synth of complex substances
inherited metabolic disorders... Ans: phenylketonuria
tay-sachs
mitochondrial dis.
wilson's
phenylketonuria Ans: mental retardation, behavioral and cognitive issues
deficiency in enzyme phenylalanine hydroxylase (turns phenylalanine into tyrosine)
primarily affects the brain
autosomal recessive
s/s within first few months
- gait disturbances, hyperactivity, psychoses, weird odor
tx dietary changes
Tay-Sachs disease Ans: absence of hexosaminidase A --> accumulation of gangliosides
(GM2) in the brain
autosomal recessive
s/s appear at 6 m.o. missing milestones
, - mental retardation & paralysis, death by 5 y.o.
no tx available
mitochondrial disorders Ans: >100 types
genetically inherited or spontaneous mutation
s/s vary: loss of coordination, weakness, visual and hearing problems, learning
disabilities, heart/liver/kidney disease, respiratory, neuro, GI disorders, dementia
tx varies - alleviate sxs
Wilson's disease Ans: rare, autosomal recessive
unable to metabolize Cu - accumulates in brain, liver, cornea, kidney
s/s develop 4-6 y.o.
- rings around the iris, degeneration of B.G., hepatitis, cirrhosis, athetoid mvt, ataxic
gait
tx = pharma to promote Cu excretion
Acid-base disorders... Ans: metabolic alkalosis
metabolic acidosis
metabolic alkalosis Ans: bicarbonate accumulation or abnormal loss of acids
pH >7.45
d/t continuous vomiting, ingestion of antacids, other alkaline substances
© Get it right 2025 Getaway - Stuvia US All rights reserved
Detailed Verified Answers
key fn of metabolic system Ans: metabolism
energy for the synth of complex substances
inherited metabolic disorders... Ans: phenylketonuria
tay-sachs
mitochondrial dis.
wilson's
phenylketonuria Ans: mental retardation, behavioral and cognitive issues
deficiency in enzyme phenylalanine hydroxylase (turns phenylalanine into tyrosine)
primarily affects the brain
autosomal recessive
s/s within first few months
- gait disturbances, hyperactivity, psychoses, weird odor
tx dietary changes
Tay-Sachs disease Ans: absence of hexosaminidase A --> accumulation of gangliosides
(GM2) in the brain
autosomal recessive
s/s appear at 6 m.o. missing milestones
, - mental retardation & paralysis, death by 5 y.o.
no tx available
mitochondrial disorders Ans: >100 types
genetically inherited or spontaneous mutation
s/s vary: loss of coordination, weakness, visual and hearing problems, learning
disabilities, heart/liver/kidney disease, respiratory, neuro, GI disorders, dementia
tx varies - alleviate sxs
Wilson's disease Ans: rare, autosomal recessive
unable to metabolize Cu - accumulates in brain, liver, cornea, kidney
s/s develop 4-6 y.o.
- rings around the iris, degeneration of B.G., hepatitis, cirrhosis, athetoid mvt, ataxic
gait
tx = pharma to promote Cu excretion
Acid-base disorders... Ans: metabolic alkalosis
metabolic acidosis
metabolic alkalosis Ans: bicarbonate accumulation or abnormal loss of acids
pH >7.45
d/t continuous vomiting, ingestion of antacids, other alkaline substances
© Get it right 2025 Getaway - Stuvia US All rights reserved
