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MCM: Biochem, Exam 1 > Diseases > Flashcards

Diseases Flashcards

(52 cards)

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1
Q

Niemann-Pick

A

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.

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2
Q

glycocalyx

A

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

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3
Q

Erythroblastosis fetalis

A

incompatibility btwn. mom and fetus bc mom is Rh-

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4
Q

Cystic Fibrosis

A

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

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5
Q

Cystinuria

A

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)
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6
Q

Hartnup Disease

A 
defect in transporter for non-polar and neutral AAs (alanine, valine, threonin, leucine, tryptophan)
cerebellar ataxia (no muscle coordination)
photodermatitis and photosensitivity
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7
Q

defect in glycolytic enzymes?

A

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

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8
Q

Tarui Disease

A

GSD VII

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

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9
Q

Fructose 1,6 Bisphosphate deficiency

A

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

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10
Q

Von Geirke Disease (GSD1a)

A

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

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11
Q

Fanconi-Bickel syndrom

A

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

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12
Q

Galactosemia

A

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)”

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13
Q

Type 2 diabetes

A

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

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14
Q

Name the glycogen storage diseases:

A 
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
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15
Q

GSD 0

A

glycogen synthase

cannot synth. glycogen

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16
Q

GSD III

A

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

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17
Q

GSD IV

A

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

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18
Q

GSD V

A

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

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19
Q

GSD VI

A

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

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20
Q

GSD II

A

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

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21
Q

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

Study These Flashcards
A

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

22
Q

pyruvate carboxylase deficiency

Study These Flashcards
A

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

no oxaloacetate prevents gluconeogenesis and urea cycle function

23
Q

fumarase def.

Study These Flashcards
A

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

24
Q

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

Study These Flashcards
A

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

MCM: Biochem, Exam 1 (5 decks)

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