Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

SFM > Diseases > Flashcards

Diseases Flashcards

1
Q

Seen in alcoholics

B1 Thiamine deficiency

A

Wernicke-Korsakoff

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

B1 Thiamine deficiency: TPP
Impaired PDC—> high blood pyruvate and a-ketoglut

Name the two forms

A

Wet Beriberi: heart and circulation; peripheral edema

Dry Beriberi: muscles, NS, paralysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

B3 Niacin deficiency

Diarrhea, dementia, dermatitis ,death

A

Pellagra

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

B3 Niacin deficiency
Nystagmus, photosensitivity, ataxia, nystagmus, scaly red skin
Impaired AA (tryptophan) absorption; defective transporter for neutral/non polar (ala, Val, there, leu, trypt)
—> serotonin, melatonin, niacin

A

Hartnup

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

B6 pyidoxine deficiency
Cannot incorporate iron into heme
Seen in lead poisoning: irritability, abdominal pain, headaches
Tx: Ca-Edta, dimercoprol

A

Sideroblastic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

B7 biotin deficiency

A

Multiple carboxylase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

B9 folate or B12 cobalamin deficiency

A

Megaloblastic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Vit D calcitrol deficiency
Poor growth, muscle weakness, bowed legs, thick wrists/ankles, steatorrhea, low sunlight
Tx: vit D3 + Ca2+ citrate

A

Rickets

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Vit C abscorbic acid deficiency
Poor wound healing, gingivitis, bleeding gums
Tx: citrus fruits

A

Scurvy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Low A-Smase
Cannot breakdown sphingomyelin: ceramide, phosphorylcholine
High SM in liver, spleen, CNS, BM
Hepatosplenomegaly, neuro damage, CHERRY red spot

A

Niemann-Pick Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Mom is Rh-; fetus is Rh+
Abs cross placenta
Increased risk factor 2nd pregnancy

A

Erythroblastosis Fetalis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q 
Hemolytic
Alcoholism; liver cirrhosis 
Increased free cholesterol on RBC--> lyes
Poor prognosis
Tx: liver transplant
A

Spur Cell Anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Autosomal rec
Defect in transporter for dimer AA: COAL
Kidney stones, renal cholic

A

Cystinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Autosomal rec
Defective CFTR (Cl- active transport outside cell)
High Cl- in airway epith cells–> Na+ compensates–> high H2O inside cell
Thicker, dry mucous, high susceptibility respiratory bacteria infection

A

Cystic Fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Low PFK-1

Exercise induced muscle weakness, hemolytic anemia, high bili and jaundice

A

Tarui Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

No insulin–> decreased pancreatic beta cells (IS)

Hyperglycemia: >/ 126 fast; >/ 199 fed

A

T1 Diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Insulin Resistance–> beta cells lose fxn bc don’t respond

A

T2 Diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Premature RBC death
Pyruvate kinase
High lactate dehydrogenase unconjugated bili

A

Hemolytic Anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Mutation in GLUT2
Cannot uptake gluc, fruct, galact
Failure to thrive, hepatomegaly, nephropathy, bloating, resistant rickets
Tx: vit D + phosphate + uncooked corn starch

A

Fanconi-Bickel Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Cannot make new sugar

Hypoglyc, lactic acidosis, ketosis, hyperventilation

A

F1,6BPase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Accumulation of galactitol
F to thrive, liver failure, sepsis, bleeding
Milder
GALT deficiency

A

Classic galactosemia

22
Q

Low GS
Hypoglyc when sleep, cramps
Tx: eat more

A

GSD0 Deficiency

23
Q

Low GSPase
Cannot release glucose from cells
Hypoglyc, GOUT, hepatomegaly
Tx: diet

A

GSD1 Von Gierke’s

24
Q

Acid maltase deficiency = lysosomal glucosidase

Heart pump problem

A

GSD2 Pompe

25
Q

Debranching enzyme deficiency

A

GSD3 Cori

26
Q

Branching enzyme deficiency

Hepatosplenomegaly, early death

A

GSD4 Andersen’s

27
Q

Muscle GPase deficiency

Cramps, exercise intolerance

A

GSD5 McArdle’s

28
Q

Liver GPase deficiency

Hypoglyc, hepatomegaly

A

GSD6 Her’s

29
Q

PDC always active
High pyruvate–> high lactate
Lactic acidosis, CNS
Tx: low alanine

A

PDP Deficiency

30
Q

Metabolic acidosis
Microcephaly
MR
Dx: UA

A

2-oxoglutaric aciduria/ketoglutatic acid

31
Q

Fatal w/in 2 years
Neuro impairment, speech delays
High urine fumarase, succinate, a-keto, citrate
Dx: UA

A

Fumarase Deficiency

32
Q

Mutation of SUCLA2 (beta) & SUCLG (a)
Oncometabolites (citrate, 2-OH glutarate)
Methylmalonic aciduria
Dx: genetic testing

A

Succinyl CoA Synthetase (SCS) Def

33
Q

Hypotonia, dystonia, atrophy, hearing impairment

A

Mito Depletion Syndrome

34
Q

High NADH/NAD+ in mito

A

OxPhos Disease

35
Q

FA cannot cross membrane for B-oxid
Impairs FA breakdown
High ammonia, depend on glucose, high C8 FAs, low PC activity—> low gluconeogenesis

A

MCAD defects

36
Q

High ketone bodies
High glucagon/insulin ration–> high FA breakdown
Low OAA, high ketone bodies
Fruity breath (acetone)

A

Ketoacidosis: Diabetes & Starvation

37
Q

Low methionine because cobalamin B12 deficiency or B9 folic acid deficiency (uses PLP)
Mutation in CBS
4 organs: eye (ectopic lens), skeletal (disproportional limbs), CNS (dimentia), vascular (stroke)

A

Homocystineuria

38
Q 
Low Branched Chain keto acid dehydrogenase 
BCAAs: Val, Leu, Ile
Syrup urine, decreased life span, MR
Jewish, amish, mennonite
Tx: thiamine and low protein
A

Maple Syrup Urine Disease (MSUD)

39
Q

High common IEM, high Phe
Musty urine, brain dysfxn
Tx: low Phe, high Tyr
Enzyme def is phenylalanine hydroxylate

A

Phenylketouria (PKU)

40
Q

Low TSH, high T3/T4

Tx: carbamazole & propylthiouracil

A

Hyperthyroidism

41
Q

High TSH, low T4

A

Hypothyroidism

42
Q

Hyperammonemia

High ammonia, edema, hypertension

A

Defective carbomyl phosphate sythetase 1

43
Q

Low UMP synthetase

High orotate and PRPP

A

Orotic Aciduria

44
Q

X linked, high in M
Low adenosine deaminase–> high adenosine–> low dNTP, dNDP–> low DNA synth
Bubble boy

A

SCID

45
Q

Low HGPRT, high guanine and hypoxanthine–> high uric acid and purines
Hyperuricemia (<1.5% normal HGPRT)
Gout, poor muscle control, self-mutilation
Tx: allopurinol (joints)

A

Lesh-Nyhan Syndrome

46
Q

One of: diabetes, impaired gluc tol, impaired fasting gluc, insulin resistance
Two of: BP > 140/90, dyslipidemia high LDL, low HDL, central obesity, microalbuminaria
Hyperlipidemia, aconthosis nigrrans, enlarged liver, xanthelasma palpebarium

A

Metabolic Syndrome

47
Q

Low protein

Edema, thin hair, distended abd. enlarged fatty liver

A

Kwashiorkor

48
Q

Low protein-calorie

Diarrhea, emaciated, stunted growth

A

Marasmus

49
Q

Accumulation of galactose and galactitol in blood and urine
Cataracts in infancy
Galactokinase deficiency

A

Non classical Galactosemia

50
Q

Sx: sideroblastic anemia, irritability, abd pain, headaches
To: chelating agents: Ca-EDTA and dimercoprol

A

Lead poisoning

SFM (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions