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Flashcards in MCM Diseases Deck (51):
1

Niemann-Pick Disease

Cause: deficiency in activity of A-SMase.
A-SMase breaks down sphingomyelin.
Leads to hepatomegaly, splenomegaly, and hallmark cherry spot in the eye.

2

Erythroblastosis fetalis

Mother is Rh- and fetus is Rh+. Mom makes ABs against fetus' RBCs.

3

Spur Cell Anemia

Elevated cholesterol in RBCs, causing rigidity. RBCs lyse as they pass through splenic capillaries, causing hemolytic anemia.

4

Cystic Fibrosis

Mutation in CFTR gene. Cl- cannot leave epithelium, causing an increase in NaCl. Water follows, causing thic secretions and increase RTIs.

5

Cystinuria

Defect in transport of Cysteine (and Arg, Lys, Orn). Results in cysteine stones in the kidney.

6

Hartnup Disease

Defect in transport of for nonpolar and uncharged AAs (think Trp and its derivatives). Leads to lack of muscle control, photodermatitis, photosensitivity.

7

Cardiotonic drugs and HF

Cardiotonics inhibit the Na/K pump and lead to an increase of Ca2+ inside the cell (think about why this would happen). Increases contraction.

8

Components of TEE (4)

BMR =/= RMR
Thermic affect of food (digestion)
Physical activity
Non-exercise induced thermogenesis

9

Vit B1

Thiamine
Coenzyme in many metabolic pathways (glcolysis, TCA, PPP non-ox phase)
Wernicke's (ataxia), Korsakoff's (psychosis), dry beriberi (muscle wasting), wet beriberi (HF).

10

Vit B2

Riboflavin
FAD/FMN
Corneal neovasularization, cheilosis, magenta colored tongue.

11

Vit B3

Niacin
NADH/NADPH (synthesized from W)
Hartnup disease can cause deficiency.
Manifests as Pellagra.

12

Vit B5

Pantothenic acid
CoA
Dermatitis, numbness, parasthesia, cramps, hypoglycemia.

13

Vit B6 (no manifestations)

Pyridoxine
ALT, AST

14

Vit B7

Biotin
Cofactor for carboxylation enzymes. (in GNG, FA synthesis)
Alopecia, rashes, bowel inflammation, muscle pain.

15

Vit B9

Folic acid
de novo pyrimidine synthesis.
Anemia, homocysteinemia.

16

Vit B12

Cobalamin
Coenzyme for homocysteine metyltransferase and methylmalonyl- CoA mutase.
Manifests as anemia, neuropathy, homocysteinemia.

17

Vit C

Ascorbate
Cofactor for colagen synthesis, norepi synthesis, Fe absorption.
Manifests as Scurvy

18

Vit A and deficiency origin

Retinol, retinoic acid, retinal.
Deficient from malabsorption, fat malabsorption and cirrhosis.
Maintains vision and epithelium.

19

Vit D (function, disease, symptoms)

Calcitriol.
GI (synthesize Ca2+), kidneys (reabsorption of Ca 2+), bone (bone resorption). All about Ca 2+!
Rickets.
Delayed growth, muscle pain/weakness, bowed legs.

20

Diabetes (I and II)

Type I: insulin deficiency due to loss of beta cells.
Type II: insulin resistance due to loss of beta cell *function*.

21

Tarui Disease

PFK-1 deficiency.
Mild but can cause muscle cramps and h. anemia.

22

F 1,6 BP deficiency

Similar to Tarui, but in GNG.
Can cause hypoglycemia, lactic acidosis.

23

Von Gierke Disease

Glucose 6-phosphatase deficiency.
Hypoglycemia, lactic acidosis, hepatomegaly (due to build up of glycogen).

24

Fanconi-Bickel syndrome

Mutation in GLUT 2. Unable to take in glu, gal, fru.
Failure to thrive, hepatomegaly, rickets.
Treat with Vit D.

25

GALT deficiency

Leads to accumulation of galactitol.
Can cause failure to thrive, liver failure, sepsis, bleeding.

26

Galactokinase deficiency

Leads to accumulation of gal and galactitol in blood and urine.
Can cause early cataracts.

27

GSD 0

Defective enzyme: glycogen synthase
Pathway affected: chain elongation

28

GSD II
Pompe Disease

Defective enzyme: acid maltase
Pathway affected: lysosomal glycogenolysis - cannot release glc.

29

GSD III
Cori Disease

Defective enzyme: debranching enzyme
Pathway affected: glc cleavage and release from branch point.

30

GSD IV
Andersen Disease

Defective enzyme: glucosyl 4:6 transferase
Pathway affected: chain branching

31

GSD V
McArdle Disease

Defective enzyme: muscle glycogen phosphorylase
Pathway affected: glc 1-P release

32

GSD VI
Hers Disease

Defective enzyme: liver glycogen phosphorylase
Pathway affected: glc 1-P release

33

2-oxoglutaric aciduria

d/o of TCA.
Causes developmental delay and severe neurological problems in infants (metabolic acidosis, microcephalopathy, mental retardation).

34

Fumarase deficiency

d/o of TCA
Causes severe neurological impairment. Fatal within 2 years. Also causes encephalopathy, dystonis, increased urinary output of fumarate, succinate, citrate and a-KG.

35

Succinyl-CoA synthetase (SCS) deficiency

Mutations in 2 of 3 subunits (SUCLA2 and SUCLG1). Predictable pattern of dytonia and deafness. Genetic testing can help diagnose.

36

Mitochondrial depletion syndrome

Severe hypotonia, progressive dystonia, muscular atrophy, and severe sensory impairment.

37

Luft's Disease

Increased metabolic function with normal thyroid activity. Caused by uncoupled ox-phosp, high levels of cytochrome c and low levels of Q

38

Primary causes of mitochondrial diseases (2)

Defect in nuclear DNA encoding mitochondrial proteins.
Defect in mitochondrial DNA

39

Secondary causes of mitochondrial diseases

Ischemia, repefusion, CVD, renal failure, drugs, alcohol, smoking.

40

Clinical features of mitochondrial diseases

Nervous system, eyes, skeletal muscle, heart

41

Metabolic features of mitochondrial diseases (3)

Low energy production.
Increased free radical production.
Lactic acidosis.

42

MCAD deficiency

Impairs breakdown of MCFAs, leading to secnodary carnitine deficiency.
FA accumulates in liver, interferes with urea cycle and increases levels of ammonia.
Patients must depend on Glu for energy.

43

Homocystinuria

Caused by defective cystathione b-synthase or Vit B6 deficiency. Increases levels of homocysteine, but can be helped by Vit B6 supplementation.
Mostly affects eyes, skeleton, CNS and vascular system.

44

MSUD

Deficienct BCKD cannot breakdown L,I,V. Blood accumulates in brain and can cause problems with brain function and eventually mental retardation. Thiamine (VB1) supplements can elp in some mild cases.

45

PKU

Defect in PAH. Phe converted to phenyllactate and phenylacetone instead of Tyr.
Can disrupt NT transmission and brain function.

46

Albanism

Defect in tyrosinase.Cannot form melanin from Tyr.

47

Gout

Increase in uric acid which crystalizes in distal parts of the body. Treated with diet change, then allopurinol to block xanthine oxidase.

48

Lesch-Nyhan syndrome

Defect in HGPRT enzyme in purine salvage pathway.
Overproduction or uric acid, leading to gout. Commonly causes kidney stones, gout, ataxia, mental retardation and self mutilation.

49

Kwashiokor

Severe protein deficiency.
Edema, light skin, hair thinning, distended abdomen, anemia, fatty liver.

50

Marasmus

Protein and calorie deficiency.
Emaciated, chronic diarrhea, RTIs, stunted growth, intellectual disabilities, no energy. Weight is less than 62% expected.

51

Metabolic syndrome

One of: DM, impaired glc tolerance, impaired fasting glc, insulin resistance.
Two of: HTN, dyslipidemia, obesity, or microalbuminuria.