SFM (Biochem, Molecular, Genetics)

Question 1

What are the salient features of Niemann-Pick Disease?

Answer 1

Def. in Acid Sphingomyelinase

hepatosplenomegaly, feeding difficulties, and loss of early motor skills in the first few months of life, as seen in this patient. The incidence is highest among Ashkenazi Jews, cherry red spot in eye

Question 2

What are some other names for Pompe Disease?

What enzyme is deficient?

Answer 2

acid alpha-glucosidase (GAA), also called acid maltase deficiency.

Alpha 1-4, glycosidase

Question 3

What are the symptoms of hereditary fructose intolerance (HFI)?

What substance will build up?

Answer 3

hypoglycemia and constellation of symptoms (tiredness, vomiting, diaphoresis) since introducing fruit into his diet.

Fructose-1-phosphate

Question 4

What is Rotor Syndrome?

Answer 4

benign condition with sleral icterus

altered ability to transport bilirubin glucuronides into bile canaliculi.

Question 5

If you attach RNA to DNA and run through electorphoresis, you’ll use what kind of blott?

Answer 5

Northern Blot

(still looking for the RNA sequence, not the DNA scequence)

Question 6

If concerned for pancreatic cancer, what are the biomarkers?

Answer 6

CEA and CA19-9

Question 7

What is low in type IIa familial dyslipidemia?

what will the lab values look like?

Answer 7

low LDL receptors

ased on the laboratory values (high total cholesterol, high low density lipoprotein-C (LDL-C), all others normal

Question 8

How is prader willi syndrome imprinting described

Answer 8

Deletion on the paternal copy of chromosome 15

Angelmans is a deletion on the maternal copy

Question 9

HNPCC is a defect in what DNA repair?

Answer 9

Mismatch repair

Question 10

What chromosome number causes Marfans?

Answer 10

15

Question 11

What will the NADH:NAD ratio be in diabetic ketoacidosis?

Answer 11

elevated

Question 12

What two findings together are higly suggestive of Gauchers?

What is the missing enxyme?

Answer 12

hepatosplenomegaly and bone disease

B-glucocerbrosidase

Question 13

What disease (more present in Ashkenazi Jews) has these sx: hypoglycemia, lactic acidemia (primary cause of the high anionic gap acidosis), hypertriglyceridemia, hyperuricemia, and hepatomegaly

Answer 13

Von Gierke

Low G6P

Question 14

Mercury inhibits what type of enzymes?

Answer 14

Selenoenzymes

Question 15

Girls with hand ringing and decrease social smiling have what condition assoc. with what genetic defect?

Answer 15

Rett Syndrome

deletion of MECP2

Question 16

If a pt is just recovered from a UTI and now they have a stone with fairly basic urine, what is the type of stone?

Answer 16

Magnesium ammonium phosphate

(usually after proteus or klebsiella infection)

Question 17

What is Menke;s syndrome?

Answer 17

copper deficiency

pale, fragile hair/kinky/silver

depigmentation

neuro abn

hepatosplenomegaly

males between 3-6m

Question 18

Which rare clotting disorder will have a prolonged PT (intrinsic pathway?)

Answer 18

Factor VII

(not 8 or 9!!)

Question 19

Pts with FAP are also at risk for what?

Answer 19

Desmoid Fibromatosis

Question 20

BRCA mutations cause a defect in what DNA repair?

Answer 20

Homologous Recombination

Question 21

What are the s/s of Fabry disease and which enzyme is deficient?

Answer 21

acroparesthesias, the non-blanching reddish-blue capillary lesions known as angiokeratomas, telangiectasias of the groin and hip, and left ventricular hypertrophy

a-galactosidase A

Question 22

Which tumor antigen marker is good for colorectal cancer?

Answer 22

CEA

Question 23

Describe Leigh Syndrome

What enzyme is deficient?

Answer 23

oor feeding, developmental delay, seizures, abnormal eye movements, ataxia, and mental delays

Pyruvate Dehydrogenase is def.

Can’t convert pyruvate to Acetyle COA

Question 24

In 11-B hydroxylase def. what will BP be?

What will build up?

Answer 24

BP is high

11-deoxycortisol will build up