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nr 602 final EXAM 2024 | ACTUAL REAL EXAM ACCURATE QUESTIONS AND ANSWERS WITH RATIONALES | VERIFIED AND LATEST UPDATED |GUARANTEED PASS$25.49
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nr 602 final exam EXAM 2024 | ACTUAL REAL
EXAM ACCURATE QUESTIONS AND ANSWERS
WITH RATIONALES | VERIFIED AND LATEST
UPDATED |GUARANTEED PASS
DeGeorge Syndrome
- ANSWERS-What is a congenital cause of hypocalcemia due to parathyroid hypoplasia, thymic
hypoplasia and cardiac outflow track defect called?
Achondroplasia
- ANSWERS-A form of human dwarfism caused by a single dominant allele; the homozygous
condition is lethal
Chondrodystrophy
- ANSWERS-dwarfism, defective nutrition of cartilage
Prader-Willi Syndrome
- ANSWERS-Caused by a lack of genetic material in the 15 pair of chromosomes. Usually
inherited from the father. The leading genetic cause of obesity. The degree of mental
retardation varies, but is usually in the mild range. Students with Prader-Willi syndrome can be
rigid and oppositional. They do not respond well to sudden changes in their routine. It can also
result in low muscle tone, short stature, incomplete sexual development, cognitive disabilities,
problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-
threatening obesity.
SHOX gene
- ANSWERS-this gene is responsible for long bone growth and is defective in pt. with Turner
Syndrome
,McCune-Albright syndrome
- ANSWERS-characterized by triad of fibrous dysplasia of the bone, endocrine abnormalities
(such as early puberty or hyperthyroidism) and cafe-au lait spots. Condition results from an
activating mutation in the G protein/CAMP/adenylate cyclase signaling pathway.
Coast of Maine border with the cafe-au-lait (irregular border)
Testotoxicosis
- ANSWERS-cause of PPP
~ testes enlarge independent of HPGA
premature thelarche
- ANSWERS-early breast development with no other hormone dependent signs (pubic hair,
menses)
PKU
- ANSWERS-A human metabolic disease caused by a mutation in a gene coding for a
phenylalanine processing enzyme (phenylalanine hydroxylase), which leads to accumulation of
phenylalanine and mental retardation if not treated; inherited as an autosomal recessive
phenotype.
MSUD (Maple Syrup Urine Disease)
- ANSWERS-Metabolic defect that affects the metabolism of branched-chain amino acids
,Propionic acidemia
- ANSWERS-Causes buildup of valine, isoleucine, threonine, methionine, cholesterol, odd chain
fatty acids (can't be converted to methylmalonyl coA and then to succinyl CoA)
Methylmalonic acidemia
- ANSWERS-results from a defect in the isomerization of methylmalonyl coA to succinyl CoA (to
enter the TCA cycle)
Ornithine transcarbamylase deficiency
- ANSWERS-Most common urea cycle disorder
X-linked recessive (other urea cycle enzyme deficiencies are autosomal recessive)
First few days of life, may present later
Excess carbamoyl phosphate converted to orotic acid
High orotic acid in blood and urine
Low BUN
Hyperammonemia symptoms
No megaloblastic anemia (vs orotic aciduria)
Citrullinemia
- ANSWERS-Argininosuccinate synthetase (ASS) deficiency. hyperammonemia, increased
citrulline levels in urine/serum. can sometimes treat with arginine (stimulates NAG which may
stimulate CPS 1)
Galactosemia
- ANSWERS-recessive genetic disorder; characterized by body's inability to tolerate galactose
MCAD deficiency
, - ANSWERS-medium chain acyl-CoA dehydrogenase (ACADM gene) def. → no FA β-oxidation
when low blood glucose → hypoketotic hypoglycemia (can't make ketone bodies)
AR
VLCAD Deficiency
- ANSWERS-Enzyme deficiency, thus no acyl-CoA is produced. Results in accumulation of acyl
carnitine and blockage of metabolism
LCHAD deficiency
- ANSWERS-fatty acid oxidation
Leigh Syndrome
- ANSWERS-degradation of motor skills
MNGIE
- ANSWERS-progessive degerations of the muscle in the GI tract
dropping eyelids
restricted eye movements
Pearson Syndrome
- ANSWERS-Mitochondrial disease
Hereditary Orotic Aciduria
- ANSWERS-Orotic Acid is excreted in the urine because UMP synthase is defective
-pyrimidines cannot be synthesized, and therefore growth retardation occurs
-oral administration of uridine bypasses the metabolic block and provides a source of
pyrimidines
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