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MCM: Biochem, Exam 1 > Diseases > Flashcards

Flashcards in Diseases Deck (52):
1

Niemann-Pick

deficient in Acid Sphingomyelinease (A-SMase)
get a build up of sphingomyelin
"No man picks (Nieman pick ) his nose with his SPHINGer (sphingomyelin)
sympt:
cherry red spot in eye,
enlargement in liver, spleen, neuro. damage.

2

glycocalyx

build up of cholesterol in the carb. shell called glycocalyx on membranes (it's outer shell)

3

Erythroblastosis fetalis

incompatibility btwn. mom and fetus bc mom is Rh-

4

Cystic Fibrosis

autosomal recessive, mutation in chloride channel that transports Cl- from inside cell to outside in airways and sweat ducts. The Cl attracts Na+ to make NaCl salt. This then incr. . This makes water go into airway cells to compenaste for aslinity, and decr. water on surface of mucous layer.
Thicker mucous, incr. bac. infections

5

Cystinuria

uptake/reabsorption defected in PCT transporter of dimeric Cystine affected. Along with Arginine, Lysine, Ornithine.
"COLA" Cystine, Ornithnine, Lysine, Arginine

Cystine crystals/stones in kidney
renal cholic (abdominal pain linked to stones)

6

Hartnup Disease

defect in transporter for non-polar and neutral AAs (alanine, valine, threonin, leucine, tryptophan)
cerebellar ataxia (no muscle coordination)
photodermatitis and photosensitivity

7

defect in glycolytic enzymes?

issue for RBC, so
hemolytic anemias (premature destruction of rbcs)
markers: elevated lactate dehydrogenase, unconjugatged bilirubin

8

Tarui Disease

GSD VII

deficient in PfK-1, the rate limiting step in glycolysis
hemolytic anemia, jaundice and bilirubin is high

9

Fructose 1,6 Bisphosphate deficiency

similar to Tarui disease, in infancy
hypoglycemia, lactiv acidosis, apnea, hyperventilation
Mutation in rate limiting step of Gluconeogeneis

10

Von Geirke Disease (GSD1a)

deficient in glucose 6-phosphate
glucose cant get freed at the end of gluconeogenesis
diet can help with managmeent

11

Fanconi-Bickel syndrom

mutation in GLUT 2 transporter, so many cells in liver, pancreatic beta, enterocytes, and renal tubular cells cannot take up:
glucose, fructose, galactose

treat with vit. D, phosphate

12

Galactosemia

def, in glucose 1P uridyltransferase (GALT) which leads to accumulation of galactitol
"FAB GUT = Fructose is to Aldolase B as Galactose is to UridylTransferase"
def. in galactokinase (type II) accumulate in blood and urin, eye cataracts* "GalactoKInase def. is KINder, benign condition)"

13

Type 2 diabetes

reduce sensitivity to insulin
insulin resistance
normal diabetic is 70-100 mg/dL

14

Name the glycogen storage diseases:

For types I-V "Very Poor Carbohydrate Metabolism"
GSD0
GSDI, von Gierke dis.
GSD II, Pompe dis.
GSD III, Cori disease
GSD IV, Andersen disease
GSD V, McArdle dis.
GSD VI, Hers Dis.
GSD VII, Tarui dis

15

GSD 0

glycogen synthase
cannot synth. glycogen

16

GSD III

Cori disease
alpha 1-6 glucosidase (debranching enzyme)
glycogen have large number of short branches

17

GSD IV

Andersen dis
glucosyl (4:6) transferase (branching enzyme)
pt. have long chain glycogen, fewer branches

18

GSD V

McArdle Dis.
Mcardle = Muscle, Myoglobinuria (red urin)
def. in muscle glycogen phosphorlylase
rate lim. step of glycogen breakdown, pt cant supply muscles w/ enough glucose

19

GSD VI

Hers Dis
def in liver glycogen phosphorylase
no glycogen breakdown in liver, accumulates there = hepatomegaly
low blood glucose levels

20

GSD II

pompe disease
"PomPe trashes the PumP, 1,4"
Lysosomal acid alpha 1-4 glucosidase w/ alpha 1-6 glucosidase activity (acid maltase)
in lysosomal glycogen degradation
accum. glycogen in lysosome
muscle dirupeted
treat with ERT, enzyme replacement therapy

21

Mutation in glycogen phosphorylase (GP), does it matter if its in liver or muscle?

yes.
liver GP = hers disease
muscle GP = McArdle syndorme

22

pyruvate carboxylase deficiency

pyruate cant produce oxaloacetate, so goes to different pathways to make lactic acid and alanin

no oxaloacetate prevents gluconeogenesis and urea cycle function

23

fumarase def.

defect in Krebs cycle.
**test for fumarate in the urine.
lethal or causes mental retardation

24

What drug used to treat HIV but blocks e- transport chain and is called the "uncoupler"?

2,4 Dinitrophenol (DNP), and Zidovudin (AZT)

25

Mutation in SuperOxidee Dismutase (SOD1)

ALS
free radicles form bc O2- forms at end of ETC, and no SOD is there to neutralize the free radical. These can damage proteins, and this case,
ALS has incr. of protein aggregates

26

What blocks the NADH dehydrogenase (complex I) in the ETC?

Amytal: barbiturate used to treat insomnia, tnesion, anxiety, epilepsy
Rotenone: for pest control. inhaled, human helath hazard


these overall block flow of e- form NADH to CoQ (ubiquinone) and no ATP can be formed from NADH. FADH2 can make 1.5ATP

27

MCAD Deficiency

Medium Chain acyl coenyme A dehydrogenase (MCAD)

issue of FA-beta-oxidation that wont let body break down MCFAs into acetyl-CoA

If ID befroe onset of symptoms, good prognosis.
Treatment: fasting when body needs FA beta oxidation for energy (aka dont fast bc no fatty acid stores can be used)

relies on glucose

28

X-Linked adrenoleukodystrophy (ALD)

inherited demylenation bc deect in transport of VLCFA CoAs into peroxisomes;
def. ALD protein, which is made from ABCD1 gene and perosisomal VLCFA CoA transporter
accumulation of lignoceric acid (24:0)& cerotic acid (26:0) in:
brain, adrenals of children

stifness in legs, impaired vision, beh. probs.
Females get on one X chromo, shows in middle age

29

Refsum disease (ARD)

Phytanic acid, from chlorphyll, branch chain fa humans get from dairy, fish, ruminant animals.
Cant be broken down by beta oxidation bc of the 3-methy group.
only substrate by alpha-oxidation in peroxisomes.
Def. in: phytanoyl CoA hydroxylase

accumulation of phytanoic acid.

neurodegenerative

30

infant refsum disease

autosomal recessive
in Zellweger spectrum
mutation in genes for peroxins proteins for peroxisome assembly
in infants with decr. cerebral mylenation

hearing & vision loss,

31

Hypoglycine

hypoglicine A, toxin in unripe fruite of akee tree in west africa
vominting, weakness
transport of beta oxidation of long chain fatty acids inhibited

32

Hyperhomocysteinemia & Homocystinuria

def. metabolism of homocystein
def. in B6, B12, folic acid)
cystathionin beta synthase def. inherited
Excess homocysteine
Methionin must be decreasted, incr. cystein and B6 to

eye lens dislocation
osteoporosis
CNS
Vascular (risk factor for atherosclerosis, heart disease, stroke)

33

Maple syrup urine disease

def. in branched chain alpha keto acid dehyrdrogenase complex (BCKD)
(Isoleucine, Leucine, Valine)
"I Love Vermont maple syrup from Branches."

branched chain AAs in urin, maple syrup smell

in mennonite, amish, jewish

34

Phenylketonuria

PKU, def. in
phenylalanine hydroxylase (PAH)

Phe cant be converted to Tyr, and eventually cannot make Fumarate

Phenylalanine accumulates

limit Phe and aspartame in diet.

35

Albinism

lack of melanin, partial or complete absence of pigmentation in skin
tyrosine to melanin conversion blocked bc.
def. tyrosinase

36

Alkaptonuria

def. in homogentisate oxidatse
the enzyme in Tyr degradative pathway that leads to making fumerate for TCA

accumulation of homogentisic acid forms pigment in skin
test for dark urine
, darkened sclera

37

Hyperthyroidism (Graves diseas)

treated with carbimazole and propylthiouracil: these block iodination of thyroglobulin in the thyroperoxdiase in follicular lumen, decr. T3, T4

38

Ammonia toxicity

exces ammonia from ura cyvle or liver failure:
toxic to Brain and CNS
ph imbalance
depletion of glutamate
mitochondrial dysfunction

39

Urea cycle and high prtoein diet

low carb, high protein incr. urea production

40

Some anti-cancer agents drugs ?

Methotrexate:
PURINE synthesis affected
competitive inhb. for enzymes that use folate.
Prevents oxidation of NADPH by DHFR
Adrucil:
stop production of DNA in cancer cells
5-Fluorouracil, (inhb. Thymidylate synthase) an antimetabolite of pyrimidines
for breast, ovarian, gastric, pancreatic, colorectal cancer.

41

Orotic Aciduria

Treat with oral uridine.

def. in UMP synthase
(During pyramiding synth)
excess. orotic acid in urin
cant convert Oric Acid to UMP
-Megaloblastic anemia

42

Acyclovir

this drug resembles nucleosides that the virus favors more than its normal nucleoside analogue. will need GTP. ONce the virus tries to put the acyclovir into DNA, it lacks a
3'-hydroxyl group,

Thymidine Kinase (TK)
***and ends DNA replication

Viral supression for:
chicken pox lesions
herpes lesions
genital herpes

43

Gout

inflamed joints (commonly big toe, metatarsal pharangeal joint)
disease of the wealthy
MSU (Monosodium Urate) crystals
high concentration, low temps, maks Na-ions crystalize

44

what can be tested for Urine to see the breakdown of dTDP, and dTTP

Beta-aminoisobutyrate

45

Lesch-Nyhan syndrome

defect in HGPRT enzyme (hypoxanthineguanin phosphoribosyltransferase) whihc works in purine salvage pathway
"HGPRT = Hyperuricemia, Gout, Pissed off (self mutilation, aggression, Retardation, dysTonia"
cannot conver Guanine, Hypoxanthine, to CMP or IMP
overproduce uric acid
hyperuricosuria (gout)
kidney stones, itchy everywhere, self mutilation :(

46

What do sulfa drugs do?

disrupt bacterial DNA replication selectivly

47

What s 5-fluorouracil?

Anticancer agent
Affects Pyrimidine Nucleotide formation

48

___ causes premature destruction of RBCs, and ___m causes SCID (severe combined immunodeficiency).

1. Overproduction of ADA (adenosine deaminase)
premature destruction of adenosine
2. Under production of ADA

49

Kwashiorkor

African word for malnutrition after weening breast feeding.
Protein defecient and malnourished. Skin lesions, swollen abdomin
"MEALS"
Malnutrition
Edema
Anemia
Liver (fatty change)
Skin lesions

50

Marasmus

extreme malnutrion, but not causing edema. Diet deficeint in calories. Child doesnt want to eat anymore, bonier.
"Marasmus results in Muscle wasting"

51

Purine synth commuted step? Drugs associated with this cycle?

2nd step, glutamine phosphoribosyl pyrophosphate amidotransferase

Methotrexate: compet inhibitor folate. Inhb DHFR

Sulfa Drugs: disrupt DNA replication in bacteria

52

Purine based?

Pyramidine bases?

Purine:
A, G

Purimidine:
C, T, Uracil, orotate