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MCM Exam 1 > MCM Diseases > Flashcards

MCM Diseases Flashcards

1
Q

Niemann-Pick Disease

A

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

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2
Q

Erythroblastosis fetalis

A

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

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3
Q

Spur Cell Anemia

A

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

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4
Q

Cystic Fibrosis

A

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

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5
Q

Cystinuria

A

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

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6
Q

Hartnup Disease

A

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

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7
Q

Cardiotonic drugs and HF

A

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

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8
Q

Components of TEE (4)

A

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

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9
Q

Vit B1

A

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).

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10
Q

Vit B2

A

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

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11
Q

Vit B3

A

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

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12
Q

Vit B5

A

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

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13
Q

Vit B6 (no manifestations)

A

Pyridoxine

ALT, AST

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14
Q

Vit B7

A

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

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15
Q

Vit B9

A

Folic acid
de novo pyrimidine synthesis.
Anemia, homocysteinemia.

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16
Q

Vit B12

A

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

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17
Q

Vit C

A

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

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18
Q

Vit A and deficiency origin

A

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

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19
Q

Vit D (function, disease, symptoms)

A

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

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20
Q

Diabetes (I and II)

A

Type I: insulin deficiency due to loss of beta cells.

Type II: insulin resistance due to loss of beta cell function.

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21
Q

Tarui Disease

A

PFK-1 deficiency.

Mild but can cause muscle cramps and h. anemia.

22
Q

F 1,6 BP deficiency

A

Similar to Tarui, but in GNG.

Can cause hypoglycemia, lactic acidosis.

23
Q

Von Gierke Disease

A

Glucose 6-phosphatase deficiency.

Hypoglycemia, lactic acidosis, hepatomegaly (due to build up of glycogen).

24
Q

Fanconi-Bickel syndrome

A

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

25
Q

GALT deficiency

A

Leads to accumulation of galactitol.

Can cause failure to thrive, liver failure, sepsis, bleeding.

26
Q

Galactokinase deficiency

A

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

27
Q

GSD 0

A

Defective enzyme: glycogen synthase

Pathway affected: chain elongation

28
Q

GSD II

Pompe Disease

A

Defective enzyme: acid maltase

Pathway affected: lysosomal glycogenolysis - cannot release glc.

29
Q

GSD III

Cori Disease

A

Defective enzyme: debranching enzyme

Pathway affected: glc cleavage and release from branch point.

30
Q

GSD IV

Andersen Disease

A

Defective enzyme: glucosyl 4:6 transferase

Pathway affected: chain branching

31
Q

GSD V

McArdle Disease

A

Defective enzyme: muscle glycogen phosphorylase

Pathway affected: glc 1-P release

32
Q

GSD VI

Hers Disease

A

Defective enzyme: liver glycogen phosphorylase

Pathway affected: glc 1-P release

33
Q

2-oxoglutaric aciduria

A

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

34
Q

Fumarase deficiency

A

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
Q

Succinyl-CoA synthetase (SCS) deficiency

A

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

36
Q

Mitochondrial depletion syndrome

A

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

37
Q

Luft’s Disease

A

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

38
Q

Primary causes of mitochondrial diseases (2)

A

Defect in nuclear DNA encoding mitochondrial proteins.

Defect in mitochondrial DNA

39
Q

Secondary causes of mitochondrial diseases

A

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

40
Q

Clinical features of mitochondrial diseases

A

Nervous system, eyes, skeletal muscle, heart

41
Q

Metabolic features of mitochondrial diseases (3)

A

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

42
Q

MCAD deficiency

A

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
Q

Homocystinuria

A

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
Q

MSUD

A

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
Q

PKU

A

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

46
Q

Albanism

A

Defect in tyrosinase.Cannot form melanin from Tyr.

47
Q

Gout

A

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

48
Q

Lesch-Nyhan syndrome

A

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
Q

Kwashiokor

A

Severe protein deficiency.

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

50
Q

Marasmus

A

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

51
Q

Metabolic syndrome

A

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

MCM Exam 1 (10 decks)

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