Biochemie

Question 1

Cardiomyopathy and systemic findings leading to early death!

Defi in Lysosomal α-1,4-glucosidase (acid maltase) ?

Answer 1

Pompe disease

Pompe trashes the pump
Heart, liver and muscle

Question 2

Severe fasting hypoglyc, hepatomegalie

.? Von Gierke disease.

Answer 2

Glucose-6-phosphatase

Question 3

Multivit. Def. , dermatitis, diarrhea, dementia and death.

Pellagra ..?.?

Answer 3

Tryptophan for synth. of niacin

Question 4

intellectual disability, osteoporosis, tall stature, kyphosis,
lens subluxation (downward and inward),
thrombosis, and atherosclerosis (stroke and
MI). ??

Answer 4

All forms result in excess homocysteine.

Findings:  homocysteine in urine

Question 5

Methionine to homocysteine by ?

Answer 5

Vit. B12 , homocys. methyltransferase

Question 6

Homocys. Plus serine by SYCSTATHIONINE SYNTH. and …. To …. ?

Answer 6

And B6 to cystathionine —-> then to Cysteine

Question 7

Alcohol , gluc. blood level is dropped, why liver did not compensate?

Answer 7

Because of the increased NADH

NADH BY alcoholic NASH

Question 8

Repetitive pyogenic infection , whiteness of hair, blue iris

Which mutated gene?

Answer 8

LYST gene , it is history of Chediak-higashi-syndrome

Phagocyt dysfunction

Question 9

___-linked _______ disorders
_______y disease, ____Deh. deficiency, _____-Nyhan syndrome,
______ (and Becker) muscular dystrophy, Hunter Syndrome, Hemophilia __ and __,
Ornithine transcarbamylase deficiency.

______ carriers can be _______ affected depending on the percentage __________ of the ___ chromosome carrying the mutant vs. normal gene.

Answer 9

X-linked recessive disorders
Fabry disease, G6PD deficiency, Lesch-Nyhan syndrome,
Duchenne (and Becker) muscular dystrophy, Hunter Syndrome, Hemophilia A and B,
Ornithine transcarbamylase deficiency.

Female carriers can be variably affected depending on the percentage inactivation of the X chromosome carrying the mutant vs. normal gene.

Question 10

MERRF syndrome (or Myoclonic _______ with Ragged ___ Fibers) is a _____________ disease. It is extremely _____

Answer 10

MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is extremely rare

Question 11

_______ It involves the following characteristics:
progressive _______ epilepsy
“_________ Red _____” - clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear so when muscle is stained with modified ________ _____ ______ - short stature - hearing _____. - lactic acidosis -exercise _____.

Answer 11

MERRF It involves the following characteristics:
progressive myoclonic epilepsy
“Ragged Red Fibers” - clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as “Ragged Red Fibers” when muscle is stained with modified Gömöri trichrome stain - short stature - hearing loss. - lactic acidosis -exercise intolerance

Question 12

What are they the Muscular dystrophies ?

Answer 12

Duchenne , Becker , myotonic typ 1
X-linked fragile X syndrom ,
Trinucleotide repeat expansion diseases:
Huntington disease, myotonic dystrophy, Friedreich ataxia, fragile X syndrome.

Question 13

Trinucleotide repeat expansion diseases are ?
_________ disease, ________ dystrophy, Fried_____ _____, fragile __ syndrome.

Try (trinucleotide) hunting for my friedeggs (X).

Answer 13

Trinucleotide repeat expansion diseases are :
Huntington disease, myotonic dystrophy, Friedreich ataxia, fragile X syndrome.

Fragile X syndrome = (CGG)n.
Friedreich ataxia = (GAA)n.
Huntington disease = (CAG)n.
Myotonic dystrophy = (CTG)n.
     X-Girlfriend’s First Aid Helped Ace My Test. May show genetic anticipation (disease severity and age of onset  in successive generations).

Question 14

What do you know about Becker disease ?

Answer 14

Usually, X-linked point mutation in dystrophin gene (no frameshift). Less severe than Duchenne. Onset in adolescence or early adulthood.

Deletions can cause both Duchenne and Becker.

Question 15

Duchenne , fill out

__-linked _______ mutationŽtruncated dystrophin proteinŽ_______ muscle _______. Weakness begins in ______ girdle muscles and progresses ________. ____?___ maneuver—patients use upper extremity to help them stand up. Onset before __ years of
age. ________ cardiomyopathy is ______ cause of death.

Answer 15

Duchenne , fill out

X-linked frameshift mutationŽtruncated dystrophin proteinŽaccelerated muscle breakdown. Weakness begins in pelvic girdle muscles and progresses superiorly. Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle A. Gower maneuver—patients use upper extremity to help them stand up. Onset before 5 years of
age. Dilated cardiomyopathy is common cause of death.

Question 16

Duchenne = _______ ________.
Dystrophin helps ______ muscle fibers, primarily in ______ and ______ muscle. It connects the intracellular cytoskeleton (____) to the transmembrane proteins __- and ___-dystroglycan, which are connected to the extracellular matrix. Loss of ______ results in _________.

 ___ and aldolase are seen; _______ blot and muscle _____ confirm diagnosis.

Answer 16

Duchenne = deleted dystrophin.
Dystrophin helps anchor muscle fibers, primarily in skeletal and cardiac muscle. It connects the intracellular cytoskeleton (actin) to the transmembrane proteins α- and b-dystroglycan, which are connected to the extracellular matrix (ECM). Loss of dystrophin results in myonecrosis.

 CPK and aldolase are seen; Western blot and muscle biopsy confirm diagnosis.

Question 17

Sx of Fragile X syndrome are ?

Repetion of _____ code ?

Answer 17

Fragile X = eXtra large testes, jaw, ears.

Trinucleotide repeat disorder (CGG)n.

Question 18

Classic galactosemia, what to avoid ?

Answer 18

Treatment: exclude galactose and lactose (galactose + glucose) from diet.

Question 19

Classic galactosemia
Absence of galactose-___-phosphate ________. ________ recessive. Damage is caused by accumulation of ______ substances (including _________, which accumulates in the ____ of the eye).
Symptoms: failure to _____, jaundice, ______megaly, infantile ______, intellectual _________.

Answer 19

Classic galactosemia
Absence of galactose-1-phosphate uridyltransferase. Autosomal recessive. Damage is caused by accumulation of toxic substances (including galactitol, which accumulates in the lens of the eye).
Symptoms: failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability.

Question 20

What are the Disorders of galactose metabolism ?

Answer 20

Galactokinase deficiency:
Hereditary deficiency of galactokinase. Galactitol accumulates if galactose is present in diet. Relatively mild condition. Autosomal recessive.

Classic galactosemia
Absence of galactose-1-phosphate uridyltransferase.

Question 21

FAB GUT is :) ?

The more serious defects lead to PO43- depletion.
Classic _________ can lead to ________ sepsis in _______.

Answer 21

Fructose is to Aldolase B as Galactose is to
UridylTransferase (FAB GUT).

The more serious defects lead to PO43- depletion.Classic galactosemia can lead to E. coli sepsis in neonates.

Question 22

Female _______ bite
Hyperpigmented skin and _____ blindness (_____ ____, black skin nodules, “black ______”); allergic reaction to ________ possible

Treatment: _______ (_____mectin for river _____)

Answer 22

Female blackfly bite
Hyperpigmented skin and river blindness (black flies, black skin nodules, “black sight”); allergic reaction to
microfilaria possible

Treatment: Ivermectin (ivermectin for river blindness)

Question 23

Measures of central tendency

Mean = ?
Median = ?
Mode = ?

Answer 23

Measures of central tendency

Mean = (sum of values)/(total number of values).
Median = middle value of a list of data sorted from least to greatest.
Mode = most common value.

Question 24

Normal distribution
Gaussian, also called bell-shaped.
Mean = median = mode.

True. ??

Answer 24

Ja

Question 25

Tetradotoxin, which channel ?

Answer 25

Na-channel

Question 26

Ramelteon is agonist for ?

Answer 26

Ramelteon is a melatonin receptor agonist, high affinity for MT1 and MT2 in suprachiasmatic nucleus (controls circadian rhythms).

Question 27

Heparin –> HIT , treatment ?

Answer 27

For rapid reversal (antidote), use protamine sulfate (positively charged molecule that binds negatively chargedheparin).

Argatroban –> Used instead of heparin for anticoagulating patients with HIT