CBSE Exam Study With Complete Questions And Verified Accurate Answers.

Alkaptonuria - correct answer Absence of homogentisate oxidase - arthritis - discolored sclerae and other areas (ear cartilage) - Dark urine - spinal disc degeneration and dense calcifications possible What is the cause of "bitter almond" breath? - correct answer Cyanide poisoning What does cyanide inhibit? - correct answer Cytocrhome oxidase in the ETC What is the treatment for cyanide poisoning? - correct answer Amyl nitrate (oxidizes hemoglobin to methemoglobin, which strongly binds cyanide) 6 month old child with frequent infections and carpopedal spasm and facial spasm upon tapping - correct answer DiGeorge Syndrome - hypoparathyroidism and T-cell deficiency Hypocalcemia is what causes the spasms CATCH22 pneumonic: Chromosome 22, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia Young (27 yrs old) man with lots of atherosclerotic plaques and small, raised yellow-brown lesions on extensor surfaces of arms - correct answer Familial hypercholesterolemia (FH) Inherited disorder that causes high serum cholesterol levels the lesions are xanthomas caused by deposits of the cholesterol A baby is born with severe abnormalities, including prominent epicanthal folds, up slanting palpebral fissures, and macroglossia. He also has thick skin at the nape of the neck He vomits greenish material immediately after eating - correct answer Down Syndrome The vomiting is due to GI disorder which they often have Boy is born with flat feet, long face, large ears, and an abnormal appearing X-chromosome - correct answer Fragile X syndrome Expansion of a CGC trinucleotide repeat sequence on the X chromosome X-linked genetic The most common cause of mental retardation is - correct answer Fragile X syndrome A baby begins to get sick after weaning from breast milk, and has a low glucose level which is not lost in urine - correct answer Fructose intolerance Fructose-1-phosphate levels will be elevated in liver cells A 12 year old intellectually disabled boy presents with vision difficulties. Exam reveals bilateral dislocated lenses and a tall, thin body habitus. Labs show increased levels of serum methionine and serum homocysteine - correct answer Homocysteinuria caused by cystathionine synthase Also at risk for CV disease and osteoporosis HOMOCY Homocyteine in urine, osteoporosis, marfoid habitus, ocular changes, kYphosis Can also be intellectually disabled 1 year old presents with abnormalities. PE reveals developmental delay, coarse facial features, skeletal abnormalities, umbilical hernia, corneal clouding. Baby's liver and spleen are enlarged, and the joints are stiff - correct answer Hurler Syndrome One of the mucopolysaccharidoses diseases Caused by alpha L-iduronidase defect (can't break down dermatin sulfate and heparan sulfate - accumulates in tissues) Hunter's Syndrome vs Hurler's Syndrome - correct answer Hunters = mild Hurler's + aggressive behavior, no corneal clouding 2 year old with mental retardation and restricted joint movement. PE reveals coarse facial features and clouded corneas. Blood tests reveal elevated lysosomal enzymes in the serum. Parents are first cousins - correct answer I-cell disease Similar to Hurler syndrome but with findings at birth First cousins just says that there is an increased risk of an autosomal recessive trait being passed Mutation of the golgi apparatus which keeps a marker from being added to proteins destined for lysosomes Lysosomes accumulate non-degradable material and the lysosomal enzymes from the golgi are secreted from the cell, showing up in the blood Man is infertile and history reveals repeated sinus infections and a chronic cough - correct answer Kartagener syndrome Immotile cilia due to a dynein arm defect Causes immotile sperm; respiratory cilia also need dynein for proper function 2 year old begins biting fingers and scratching face incessantly - has become increasingly irritable. Mother reports orange "sand" in diaper. Serum uric acid level of 55 mg/dL. Urinalysis reveals crystalluria and microscopic hematuria - correct answer Lesch-Nyhan syndrome Caused by deficiency in HGPRT Can also be an acronym! H = Hyperuricemia G = Gout P = Pissed off R = Retardation T = dysTonia Hyperuricemia is what causes the orange "sand" The treatment for Lesch-Nyhan syndrome is - correct answer Allopurinol Inhibits xanthine oxidase, preventing formation of uric acid 19 year old female presents with extreme muscle aches after working out. Urine is the color of "cherry soda pop" Labs reveal serum creatinase level of 93970 IU/L. Urine positive for myoglobin - correct answer McArdle's disease (Type V glycogen storage disease) No increase in lactic acid after working because lactic acid is a product of glucose/glycogen metabolism Cherry soda pop urine is due to myoglobinuria from muscles breaking down due to lack of glucose, as well as elevated creatine kinase Patient is not diabetic but experiences severe hypoglycemia between meals - correct answer Von Gierke disease ( Type I glycogen storage disease) Caused by a deficiency in Glucose-6-phosphate Patient has extreme exercise intolerance and dies at a young age due to heart failure - correct answer Pompe disease (Type II glycogen storage disease) Due to deficiency in lysosomal acid alpha 1,4, glucosidase activity PomPe trashes the PumP (1,4) (heart, liver, and muscle) What is a milder version of Von Gierke's disease? - correct answer Cori disease (Type III glycogen storage disease) 2 year old presents due to poor development as well as vomiting, irritability, and a skin rash. Mother says his urine has a strange "mousy" odor. He has a surprisingly fair-skinned complexion compared to the rest of his family. PE reveals hypertonia, hyper reflexiveness, and an eczema-like rash. - correct answer Phenylketonuria Findings: intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor Deficiency in metabolism of phenylalanine -- leads to excess phenyl ketones in blood (musty odor) What are the only purely ketogenic amino acids? - correct answer Leucine and lysine