CBSE EXAM QUESTIONS WITH CORRECT kk kk kk kk
ANSWERS 2025/2026 kk kk
Alkaptonuria - CORRECT ANSWER -Absence of homogentisate oxidase
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- arthritis
- discolored sclerae and other areas (ear cartilage)kk kk kk kk kk kk
- Dark urine kk
- spinal disc degeneration and dense calcifications possible
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What is the cause of "bitter almond" breath? - CORRECT ANSWER -Cyanide poisoning
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What does cyanide inhibit? - CORRECT ANSWER -Cytocrhome oxidase in the ETC
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What is the treatment for cyanide poisoning? - CORRECT ANSWER -Amyl nitrate (oxidizes hemoglobin
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to methemoglobin, which strongly binds cyanide)
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6 month old child with frequent infections and carpopedal spasm and facial spasm upon tapping
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- CORRECT ANSWER -DiGeorge Syndrome kk kk kk
- hypoparathyroidism and T-cell deficiency kk kk kk
Hypocalcemia is what causes the spasms kk kk kk kk kk
CATCH22 pneumonic: Chromosome 22, Abnormal facies, Thymic hypoplasia, Cleft palate, and
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Hypocalcemia
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,Young (27 yrs old) man with lots of atherosclerotic plaques and small, raised yellow-brown
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lesions on extensor surfaces of arms - CORRECT ANSWER -Familial hypercholesterolemia (FH)
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Inherited disorder that causes high serum cholesterol levels
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the lesions are xanthomas caused by deposits of the cholesterol
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A baby is born with severe abnormalities, including prominent epicanthal folds, up slanting
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palpebral fissures, and macroglossia. He also has thick skin at the nape of the neck
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He vomits greenish material immediately after eating - CORRECT ANSWER -Down Syndrome
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The vomiting is due to GI disorder which they often have
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Boy is born with flat feet, long face, large ears, and an abnormal appearing X-chromosome - CORRECT
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ANSWER -Fragile X syndrome
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Expansion of a CGC trinucleotide repeat sequence on the X chromosome
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X-linked genetic kk
The most common cause of mental retardation is - CORRECT ANSWER -Fragile X syndrome
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A baby begins to get sick after weaning from breast milk, and has a low glucose level which is not
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lost in urine - CORRECT ANSWER -Fructose intolerance
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Fructose-1-phosphate levels will be elevated in liver cells kk kk kk kk kk kk kk
, A 12 year old intellectually disabled boy presents with vision difficulties. Exam reveals bilateral
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dislocated lenses and a tall, thin body habitus. Labs show increased levels of serum methionine
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and serum homocysteine - CORRECT ANSWER -Homocysteinuria caused by cystathionine
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synthase
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Also at risk for CV disease and osteoporosis
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HOMOCY
Homocyteine in urine, osteoporosis, marfoid habitus, ocular changes, kYphosis kk kk kk kk kk kk kk kk
Can also be intellectually disabled
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1 year old presents with abnormalities. PE reveals developmental delay, coarse facial features,
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skeletal abnormalities, umbilical hernia, corneal clouding. Baby's liver and spleen are enlarged,
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and the joints are stiff - CORRECT ANSWER -Hurler Syndrome
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One of the mucopolysaccharidoses diseases
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Caused by alpha L-iduronidase defect (can't break down dermatin sulfate and heparan sulfate -
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accumulates in tissues)
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Hunter's Syndrome vs Hurler's Syndrome - CORRECT ANSWER -Hunters = mild Hurler's +
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aggressive behavior, no corneal clouding
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2 year old with mental retardation and restricted joint movement. PE reveals coarse facial
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features and clouded corneas. Blood tests reveal elevated lysosomal enzymes in the serum.
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Parents are first cousins - CORRECT ANSWER -I-cell disease
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ANSWERS 2025/2026 kk kk
Alkaptonuria - CORRECT ANSWER -Absence of homogentisate oxidase
kk kk kk kk kk kk kk
- arthritis
- discolored sclerae and other areas (ear cartilage)kk kk kk kk kk kk
- Dark urine kk
- spinal disc degeneration and dense calcifications possible
kk kk kk kk kk kk
What is the cause of "bitter almond" breath? - CORRECT ANSWER -Cyanide poisoning
kk kk kk kk kk kk kk kk kk kk kk kk
What does cyanide inhibit? - CORRECT ANSWER -Cytocrhome oxidase in the ETC
kk kk kk kk kk kk kk kk kk kk kk
What is the treatment for cyanide poisoning? - CORRECT ANSWER -Amyl nitrate (oxidizes hemoglobin
kk kk kk kk kk kk kk kk kk kk kk kk kk
to methemoglobin, which strongly binds cyanide)
kk kk kk kk kk kk
6 month old child with frequent infections and carpopedal spasm and facial spasm upon tapping
kk kk kk kk kk kk kk kk kk kk kk kk kk kk
- CORRECT ANSWER -DiGeorge Syndrome kk kk kk
- hypoparathyroidism and T-cell deficiency kk kk kk
Hypocalcemia is what causes the spasms kk kk kk kk kk
CATCH22 pneumonic: Chromosome 22, Abnormal facies, Thymic hypoplasia, Cleft palate, and
kk kk kk kk kk kk kk kk kk kk
Hypocalcemia
kk
,Young (27 yrs old) man with lots of atherosclerotic plaques and small, raised yellow-brown
kk kk kk kk kk kk kk kk kk kk kk kk kk
lesions on extensor surfaces of arms - CORRECT ANSWER -Familial hypercholesterolemia (FH)
kk kk kk kk kk kk kk kk kk kk kk kk
Inherited disorder that causes high serum cholesterol levels
kk kk kk kk kk kk kk
the lesions are xanthomas caused by deposits of the cholesterol
kk kk kk kk kk kk kk kk kk
A baby is born with severe abnormalities, including prominent epicanthal folds, up slanting
kk kk kk kk kk kk kk kk kk kk kk kk
palpebral fissures, and macroglossia. He also has thick skin at the nape of the neck
kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk
He vomits greenish material immediately after eating - CORRECT ANSWER -Down Syndrome
kk kk kk kk kk kk kk kk kk kk kk
The vomiting is due to GI disorder which they often have
kk kk kk kk kk kk kk kk kk kk
Boy is born with flat feet, long face, large ears, and an abnormal appearing X-chromosome - CORRECT
kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk
ANSWER -Fragile X syndrome
kk kk kk kk
Expansion of a CGC trinucleotide repeat sequence on the X chromosome
kk kk kk kk kk kk kk kk kk kk
X-linked genetic kk
The most common cause of mental retardation is - CORRECT ANSWER -Fragile X syndrome
kk kk kk kk kk kk kk kk kk kk kk kk kk
A baby begins to get sick after weaning from breast milk, and has a low glucose level which is not
kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk
lost in urine - CORRECT ANSWER -Fructose intolerance
kk kk kk kk kk kk kk kk
Fructose-1-phosphate levels will be elevated in liver cells kk kk kk kk kk kk kk
, A 12 year old intellectually disabled boy presents with vision difficulties. Exam reveals bilateral
kk kk kk kk kk kk kk kk kk kk kk kk kk
dislocated lenses and a tall, thin body habitus. Labs show increased levels of serum methionine
kk kk kk kk kk kk kk kk kk kk kk kk kk kk kk
and serum homocysteine - CORRECT ANSWER -Homocysteinuria caused by cystathionine
kk kk kk kk kk kk kk kk kk kk
synthase
kk
Also at risk for CV disease and osteoporosis
kk kk kk kk kk kk kk
HOMOCY
Homocyteine in urine, osteoporosis, marfoid habitus, ocular changes, kYphosis kk kk kk kk kk kk kk kk
Can also be intellectually disabled
kk kk kk kk
1 year old presents with abnormalities. PE reveals developmental delay, coarse facial features,
kk kk kk kk kk kk kk kk kk kk kk kk
skeletal abnormalities, umbilical hernia, corneal clouding. Baby's liver and spleen are enlarged,
kk kk kk kk kk kk kk kk kk kk kk kk
and the joints are stiff - CORRECT ANSWER -Hurler Syndrome
kk kk kk kk kk kk kk kk kk kk
One of the mucopolysaccharidoses diseases
kk kk kk kk
Caused by alpha L-iduronidase defect (can't break down dermatin sulfate and heparan sulfate -
kk kk kk kk kk kk kk kk kk kk kk kk kk
accumulates in tissues)
kk kk kk
Hunter's Syndrome vs Hurler's Syndrome - CORRECT ANSWER -Hunters = mild Hurler's +
kk kk kk kk kk kk kk kk kk kk kk kk
aggressive behavior, no corneal clouding
kk kk kk kk kk
2 year old with mental retardation and restricted joint movement. PE reveals coarse facial
kk kk kk kk kk kk kk kk kk kk kk kk kk
features and clouded corneas. Blood tests reveal elevated lysosomal enzymes in the serum.
kk kk kk kk kk kk kk kk kk kk kk kk kk
Parents are first cousins - CORRECT ANSWER -I-cell disease
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