Disease Specifics

Question 1

Name two disease in which there’s lens sublaxation along with there directions?

Answer 1

Homocystinuria causes DOWN and IN lens sublaxation,

Marfan Syndrome causes UP AND FANS OUT lens sublaxation

Question 2

Name two conditions in which MARFANOID HABITUS is a characteristic?

Answer 2

HomoCytinuria, MEN 2B

Question 3

2 diseases in which hypoketotic hypoglycemia occurs?

Answer 3

Primary Carnitine Deficiency

MCAD Deficiency

Question 4

What is the difference between lab results of methylmalonic acidemia and propionic acidemia?

Answer 4

Propionic acidemia DOES NOT display elevated levels of urine methylmalonic acid.

Question 5

Common lab manifestations of Methylmalonic acidemia and Propionic Acidemia

Answer 5

Increased Ketones in serum,
Hyperammonemia (Organic acids inhibit urea cycle)
Anion gap Metabolic acidosis
Hypoglycemia

Question 6

What the enzymes defective in methylmalonic acidemia and Propionic acidemia?

Answer 6

Methylmalonic CoA Mutase
(requires B12)
Propionyl CoA Carboxylase
(Requires Biotin)

Question 7

Enlarged lysosomes with PAS positive staining?

Answer 7

POMPE DISEASE.

Question 8

Which enzyme is defective in pompe disease?

Answer 8

Acid alpha-glucosidase also knows an acid maltase

Question 9

Pixorize scene for essential fructosuria and fructose intolerance?

Answer 9

Essential fructoseuria—> woman taking a shower with frutu essence shampoo. Has a fructo-KIND protein bar on her vanity.

Fructose Intolerance—-> fruit ninja with defective owl doll.

Question 10

Buildup of which substance occurs in fructose intolerance?

Answer 10

Fructose 6 phosphate

Question 11

Low levels of which 2 subtances are seen in fructose intolerance?

Answer 11

Glucose and free phosphate levels are low.

Question 12

13 year old boy has hypercoagulation. Increased Serum methionine levels.

Which amino acid is most likely essential in this patient?

Answer 12

Cysteine. Patient has homocystinuria.