CBSE Exam 2024 with Complete Solutions
Alkaptonuria - ANSWER-Absence of homogentisate oxidase
- arthritis
- discolored sclerae and other areas (ear cartilage)
- Dark urine
- spinal disc degeneration and dense calcifications possible
CBSE Exam 2024 with Complete Solutions
Alkaptonuria - 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? - ANSWER-Cyanide poisoning
What does cyanide inhibit? - ANSWER-Cytocrhome oxidase in the ETC
What is the treatment for cyanide poisoning? - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - ANSWER-I-cell disease
Similar to Hurler syndrome but with findings at birth
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