SFM (Biochem, Molecular, Genetics) Flashcards
What are the salient features of Niemann-Pick Disease?
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
What are some other names for Pompe Disease?
What enzyme is deficient?
acid alpha-glucosidase (GAA), also called acid maltase deficiency.
Alpha 1-4, glycosidase
What are the symptoms of hereditary fructose intolerance (HFI)?
What substance will build up?
hypoglycemia and constellation of symptoms (tiredness, vomiting, diaphoresis) since introducing fruit into his diet.
Fructose-1-phosphate
What is Rotor Syndrome?
benign condition with sleral icterus
altered ability to transport bilirubin glucuronides into bile canaliculi.
If you attach RNA to DNA and run through electorphoresis, you’ll use what kind of blott?
Northern Blot
(still looking for the RNA sequence, not the DNA scequence)
If concerned for pancreatic cancer, what are the biomarkers?
CEA and CA19-9
What is low in type IIa familial dyslipidemia?
what will the lab values look like?
low LDL receptors
ased on the laboratory values (high total cholesterol, high low density lipoprotein-C (LDL-C), all others normal
How is prader willi syndrome imprinting described
Deletion on the paternal copy of chromosome 15
Angelmans is a deletion on the maternal copy
HNPCC is a defect in what DNA repair?
Mismatch repair
What chromosome number causes Marfans?
15
What will the NADH:NAD ratio be in diabetic ketoacidosis?
elevated
What two findings together are higly suggestive of Gauchers?
What is the missing enxyme?
hepatosplenomegaly and bone disease
B-glucocerbrosidase
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
Von Gierke
Low G6P
Mercury inhibits what type of enzymes?
Selenoenzymes
Girls with hand ringing and decrease social smiling have what condition assoc. with what genetic defect?
Rett Syndrome
deletion of MECP2
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?
Magnesium ammonium phosphate
(usually after proteus or klebsiella infection)
What is Menke;s syndrome?
copper deficiency
pale, fragile hair/kinky/silver
depigmentation
neuro abn
hepatosplenomegaly
males between 3-6m
Which rare clotting disorder will have a prolonged PT (intrinsic pathway?)
Factor VII
(not 8 or 9!!)
Pts with FAP are also at risk for what?
Desmoid Fibromatosis
BRCA mutations cause a defect in what DNA repair?
Homologous Recombination
What are the s/s of Fabry disease and which enzyme is deficient?
acroparesthesias, the non-blanching reddish-blue capillary lesions known as angiokeratomas, telangiectasias of the groin and hip, and left ventricular hypertrophy
a-galactosidase A
Which tumor antigen marker is good for colorectal cancer?
CEA
Describe Leigh Syndrome
What enzyme is deficient?
oor feeding, developmental delay, seizures, abnormal eye movements, ataxia, and mental delays
Pyruvate Dehydrogenase is def.
Can’t convert pyruvate to Acetyle COA
In 11-B hydroxylase def. what will BP be?
What will build up?
BP is high
11-deoxycortisol will build up
