Deja Review - Biochemistry II

Question 1

cataract, mental retard, hepatosplenomegaly, galactitol accumulation

Answer 1

galactosemia

Question 2

galactosemia genetic

Answer 2

auto recessive

Question 3

galactosemia enzyme

Answer 3

deficient - galactose - 1-P uridyltransferase

Question 4

food avoid galacyosemia

Answer 4

galactose

lactose

Question 5

altered mental status
lactic acidosis
increased pyruvate and alanine

Answer 5

pyruvate DH deficiency

tx -increased diet fat and ketogenic AAs

Question 6

ketogenic AAs

Answer 6

leucine

lysine

Question 7

G6PD deficiency genetic

Answer 7

X-linked recessive

Question 8

cystinuria AAs

Answer 8

inherited transported of COLA

cystine
ornithine
arginine
lysine

Question 9

branched chain AAs

Answer 9

isoleucine
leucine
valine

Val is loose.

Question 10

enzyme maple syrup urine disease

Answer 10

a-keto acid DH

Question 11

sup with PKU

Answer 11

tyrosine

Question 12

SCID enzyme

Answer 12

adenosine deaminase

purine salvage pathway

Question 13

lesch nyhan genetic

Answer 13

X-linked recessive

deficient - HGPRT

retard, self mutilation, aggression, gout, choreoathetosis

Question 14

glucose-6 phosphatase deficiency

Answer 14

von gierke

Question 15

deficient lysosomal a-1,4 glucosidase

Answer 15

pompe disease

Question 16

deficient debranching enzyme a-1,6 glucosidase

Answer 16

cori disease

Question 17

fabry disease

Answer 17

X-linked recessive

deficient a-galactosidase A

Question 18

X-linked recessive lysosomal storage disease

Answer 18

hunter

fabry

Question 19

deficient iduronate sulfatase

Answer 19

hunter syndrome

Question 20

hunter vs. hurler

Answer 20

hunter - should not have clouded cornea or mental retardation

but a hurler does

Question 21

deficient a-iduronidase

Answer 21

hurler syndrome

auto recessive

Question 22

accumulation of mucopolysaccharides

Answer 22

hunter and hurler syndrome

Question 23

deficient B-glucocerebrosidase

Answer 23

gaucher disease

Question 24

deficient hexosaminidase A

Answer 24

auto recessive

tay sachs

Question 25

tay sachs genetic

Answer 25

auto recessive

Question 26

nieman pick enzyme

Answer 26

sphingomyelinase

Question 27

niemann pick genetic

Answer 27

auto recessive

Question 28

accumulation of galactocerebroside in brain

Answer 28

krabbe disease

Question 29

deficient galactosylceramide B-galactosidase

Answer 29

krabbe disease

Question 30

deficient arylsulfatase A

Answer 30

metachromic leukodystrophy

Question 31

cheilosis, angular stomatitis, glossitis, seborrheic dermatitis, corneal vascularization

Answer 31

deficient B2 - riboflavin

Question 32

adrenal insufficiency vitamine

Answer 32

B5

Question 33

nitrosamine

Answer 33

smoked food carcinogen

Question 34

calcium oxalate crystals

Answer 34

with ethylene glycol poisoning