Metabolic and Endocrine Systems - NPTE Review
Questions with Detailed Verified Answers
Inherited Metabolic Disorders Ans: Symptoms in newborn including lethargy, apnea,
poor feeding, tachypnea, vomiting, hypoglycemia, urine changes, and seizures
Phenylketonuria (amino acid/organic acid metabolic disorder) Ans: Syndrome that
consists of mental retardation as well as behavioral and cognitive issues secondary to
an elevation of serum phenylalanine. Deficiency in the enzyme phenylalanine
hydroxylase. Children in US are tested at birth for PKU and levels greater than 6mg/dl
of phenylalanine require some form of tx
Phenylketonuria - etiology Ans: Autosomal recessive inherited trait and is most
common in caucasian populations
Phenylketonuria - S/S Ans: Symptoms will typically present within a few months of
birth as the phylalanine accumulates. If left untreated, severe mental retardation will
occur. Gait disturbances, hyperactivity, psychoses, abnormal body odor and display
features that are lighter in coloring when compared to other family members
Phenylketonuria - Tx Ans: Treated through dietary restriction of phenylalanine.
Adequate prevention will avoid all manifestations of the dz.
Tay-Sachs Disease (lysosomal storage disorder) Ans: Absence or deficiency of
hexasaminidase A. This produces an accumulation of gangliosides (GM2) within the
brain.
Tay-Sachs Disease - etiology Ans: Autosomal recessive inherited trait
Tay-Sachs Disease - S/S Ans: At approximately six mos of age, child will start to miss
developmental milestones and will continue to deteriorate in motor and cognitive
skills. Develops significant mental retardation and paralysis, and will usually die by the
age of five
Tay-Sachs Disease - Tx Ans: Genetic testing in high risk populations to identify
carriers prior to pregnancy is important in order to avoid this disorder
, Mitochondrial Disorders - etiology Ans: Result from genetically inherited or
spontaneous mutations in the DNA that lead to impaired function of proteins found
within the mitochondria
Mitochondrial Disorders - S/S Ans: Loss of mm coordination, mm weakness, visual
and hearing problems, learning disabilities, heart, liver and kidney dz, respiratory,
neurological and GI disorders and dementia
Mitochondrial Disorders - Tx Ans: Aimed at alleviating the current symptoms and
slowing the progression of the disease process
Wilson's Disease (hepatolenticular degeneration) Ans: Rare inherited disorder that is
most common in eastern Europeans, sicilians, and southern italians. Typically appears
in people under 40 years old and symptoms can develop in children typically between
four and six years of age
Wilson's Disease - etiology Ans: Autosomal recessive inherited trait that produces a
defect in the body's ability to metabolize copper
Wilson's Disease - s/s Ans: Symptoms typically appear btw ages of 4-6 and include
Kayser-Fleischer rings surrounding the iris of the eye secondary to copper deposits,
degenerative changes in the brain (especially within the basal ganglia), hepatitis,
cirrhosis of the liver, athetoid movements and ataxic gait patterns. May also be
emotional and behavioral changes as the copper continues to accumulate. Deformities
of msk system, pathologic fractures, osteomalacia, mm atrophy, and contractures
Wilson's Disease - tx Ans: Vitamin B6 and D-penicillamine as both promote the
excretion of excess copper from the body. Focus on prevention of hepatic disease
since a pt will die from hepatic failure if the condition is left untreated
Metabolic Alkalosis - etiology Ans: continuous vomiting, ingestion of antacids or other
alkaline substances or diuretic therapy, may also be associated with hypokalemia or
nasogastric suctioning
Metabolic Alkalosis - S/S Ans: nausea, diarrhea, prolonged vomiting, confusion, mm
fasciculations, mm cramping, nm hyperexcitability, convulsions, paresthesias, and
© Get it right 2025 Getaway - Stuvia US All rights reserved
Questions with Detailed Verified Answers
Inherited Metabolic Disorders Ans: Symptoms in newborn including lethargy, apnea,
poor feeding, tachypnea, vomiting, hypoglycemia, urine changes, and seizures
Phenylketonuria (amino acid/organic acid metabolic disorder) Ans: Syndrome that
consists of mental retardation as well as behavioral and cognitive issues secondary to
an elevation of serum phenylalanine. Deficiency in the enzyme phenylalanine
hydroxylase. Children in US are tested at birth for PKU and levels greater than 6mg/dl
of phenylalanine require some form of tx
Phenylketonuria - etiology Ans: Autosomal recessive inherited trait and is most
common in caucasian populations
Phenylketonuria - S/S Ans: Symptoms will typically present within a few months of
birth as the phylalanine accumulates. If left untreated, severe mental retardation will
occur. Gait disturbances, hyperactivity, psychoses, abnormal body odor and display
features that are lighter in coloring when compared to other family members
Phenylketonuria - Tx Ans: Treated through dietary restriction of phenylalanine.
Adequate prevention will avoid all manifestations of the dz.
Tay-Sachs Disease (lysosomal storage disorder) Ans: Absence or deficiency of
hexasaminidase A. This produces an accumulation of gangliosides (GM2) within the
brain.
Tay-Sachs Disease - etiology Ans: Autosomal recessive inherited trait
Tay-Sachs Disease - S/S Ans: At approximately six mos of age, child will start to miss
developmental milestones and will continue to deteriorate in motor and cognitive
skills. Develops significant mental retardation and paralysis, and will usually die by the
age of five
Tay-Sachs Disease - Tx Ans: Genetic testing in high risk populations to identify
carriers prior to pregnancy is important in order to avoid this disorder
, Mitochondrial Disorders - etiology Ans: Result from genetically inherited or
spontaneous mutations in the DNA that lead to impaired function of proteins found
within the mitochondria
Mitochondrial Disorders - S/S Ans: Loss of mm coordination, mm weakness, visual
and hearing problems, learning disabilities, heart, liver and kidney dz, respiratory,
neurological and GI disorders and dementia
Mitochondrial Disorders - Tx Ans: Aimed at alleviating the current symptoms and
slowing the progression of the disease process
Wilson's Disease (hepatolenticular degeneration) Ans: Rare inherited disorder that is
most common in eastern Europeans, sicilians, and southern italians. Typically appears
in people under 40 years old and symptoms can develop in children typically between
four and six years of age
Wilson's Disease - etiology Ans: Autosomal recessive inherited trait that produces a
defect in the body's ability to metabolize copper
Wilson's Disease - s/s Ans: Symptoms typically appear btw ages of 4-6 and include
Kayser-Fleischer rings surrounding the iris of the eye secondary to copper deposits,
degenerative changes in the brain (especially within the basal ganglia), hepatitis,
cirrhosis of the liver, athetoid movements and ataxic gait patterns. May also be
emotional and behavioral changes as the copper continues to accumulate. Deformities
of msk system, pathologic fractures, osteomalacia, mm atrophy, and contractures
Wilson's Disease - tx Ans: Vitamin B6 and D-penicillamine as both promote the
excretion of excess copper from the body. Focus on prevention of hepatic disease
since a pt will die from hepatic failure if the condition is left untreated
Metabolic Alkalosis - etiology Ans: continuous vomiting, ingestion of antacids or other
alkaline substances or diuretic therapy, may also be associated with hypokalemia or
nasogastric suctioning
Metabolic Alkalosis - S/S Ans: nausea, diarrhea, prolonged vomiting, confusion, mm
fasciculations, mm cramping, nm hyperexcitability, convulsions, paresthesias, and
© Get it right 2025 Getaway - Stuvia US All rights reserved
