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MCM Midterm > MCM Diseases > Flashcards

MCM Diseases Flashcards

1
Q

Nieman Pick Disease

  1. Deficiency
  2. Build up
  3. Clinical features
A
  1. Acid spingomyelinase
  2. SM buildup in bone marrow, liver, CNS
  3. Cherry red spot on back of retina
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2
Q

Cystic- Fibrosis

  1. Deficiency
  2. Build up
  3. Clinical Features
A
  1. Mutation in CFTR gene
  2. Chloride buildup
  3. Salty sweat, build up of mucus in airways
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3
Q

Hemolytic Anemia

A

Premature RBC destruction:

Deficiency in glycolysis enzymes —> ATP deficiency—> improper ion gradients —> cell destruction —> hemolytic anemia

Deficiency in :
Aldolase A
Pyruvate Kinase

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4
Q

Tarui Disease GSD VII

A
  1. PFK-1 deficiency

2. Exercise induced muscle cramps, hemolytic anemia, high bilirubin, jaundice

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5
Q

Von Gierke Disease

  1. Defective enzyme
  2. Pathway affected
A

GSD I

  1. G6P (glucose-6-phosphate)
  2. Glycogenolysis/ gluconeogenesis (dephosphorylation of GLC 6-P to GLC)
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6
Q

Pompe Disease

  1. Defective enzyme
  2. Pathway affected
A

GSD II

  1. Acid Maltase
  2. Lysosomal glycogenolysis (release of GLC)
    * Therapy treatment- enzyme replacement, a-glucosidase delivered via IV
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7
Q

Cori Disease

  1. Defective enzyme
  2. Pathway affected
A
  1. Debranching enzyme (a-1,6-glucosidase activity)

2. Glycogenolysis (GLC cleavage and release from branch point)

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8
Q

Anderson Disease

ABCD

A

GSD IV

  1. Glucosyl (4:6) Transferase (branching)
  2. Glycogen branching
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9
Q

McArdle Disease

A

GSD V

  1. Glycogen phosphorylase
  2. Glycogenolysis
    * MUSCLE
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10
Q

Hers Disease

A

GSD VI

  1. Glycogen phosphorylase
  2. Glycogenolysis
    * LIVER
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11
Q

F1,6BP Deficiency

A 
(similar to Tarui)
1. F1,6BP
2. Gluconeogenesis
Can't make extra glucose. 
Hypoglycemia, lactic acidosis, ketosis, apnea, hyperventilation
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12
Q

Fanconi-Bickel Syndrome

  1. Deficiency
  2. Result
A
  1. Mutuation in GLUT 2 transporter
  2. Unable to take up glucose, galactose, fructose

failure to thrive, hepatomegaly, rickets, tubular nephropathy, abdominal bloating

Treatment: Vitamin D, phosphate, uncooked corn starch

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13
Q

Galactosemia

  1. Deficiency
  2. Result
A
  1. Glucose 1P uridyltransferase (GALT)
  2. Accumulation of galactitol
    (failure to thrive, sepsis, liver failure)

TYPE II:
1. Galactokinase
2. Accumulation of galactose and galactitol in blood and urine
(cataracts in early infancy)

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14
Q

Type II Diabetes

A

Insulin Resistance

  • Mutations in insulin receptor and/or downstream signaling proteins
  • BGL >126mg/dL
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15
Q

GSD 0

A
  1. Glycogen synthase
  2. Cannot synthesize glycogen
    (muscle cramps, rely on glucose, need to eat frequently)
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16
Q

Succinyl- CoA Synthetase Deficiency (SCS)

A

Mutations of subunits that make up SUCLA/2

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17
Q

Mitochondrial Depletion Syndrome

A 
Associated with:
Profound hypotonia
Progressive dystonia
Muscular atrophy
Severe sensory neural hearing imparment
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18
Q

Mitochondrial Diseases

  1. Primary cause
  2. Secondary cause
  3. Manifestations
A
  1. Defect in mito DNA
  2. Cardio diseases, renal failure, alcohol, smoking, ischemia, reperfusion
  3. Nervous, Heart, Skeletal muscle, vision
    - low energy production
    - increased free radical production
    - lactic acidosis
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19
Q

MCAD Deficiency

  1. Deficiency
  2. Effected Pathway
  3. Manifestation
A
  1. MCAD defect- impaired breakdown of MCFA’s
  2. FA B-oxidation
  3. Secondary carnitine deficiency
    - FA accumulation in liver
    - Interference with urea cycle
    - Elevated ammonia
20
Q

Ketoacidosis

A

[Glucacon : insulin] increased (starvation)

  • Favors FA Breakdown
  • Increased. gluconeogenesis
  • Increased Acetyl CoA in mito
  • Acetone breath
21
Q

Maple Syrup Urine Disease (MSUD)

  1. Deficiency
  2. Manifestation
  3. Treatment
A
  1. Deficient in BCKD (branched chain a-keto aciddehydrogenase complex
  2. Branched-chain amino acids in urine- maple urine smell
  3. synthetic diet limited BCAA (Valine, Leucine, Isoleucine)
22
Q

Phenylketouria

  1. Defects
  2. Manifestation
  3. Treatment
A
  1. Defect in Phenylalanine hydroxylase (PAH) activity
  2. musty odor in urine
    - Impairment of brain function
  3. Dietary limit Phe
23
Q

Albinism

  1. Deficiency
  2. Defect
  3. Manifestation
A
  1. Tyrosinase enzyme
  2. Severe lack of melanin (tyrosine can’t convert to melanin)
  3. Partial or complete absence of pigmentation in skin, hair, eyes
24
Q

Ammonia Toxicity

  1. Deficiency
  2. Defect
  3. Manifestation
A
  1. Excessive ammonia due to Uric acid cycle disorders
  2. pH imbalance, mitochondrial dysfunction
  3. Toxic effects on brain, CNS
25
Q

Lesch-Nyhan Syndrome

  1. Defect
  2. Build up
  3. Manifestation
A
  1. HGPRT enzyme in purine salvage pathway
  2. Overproduction of uric acid
  3. Hyperuricemia, hyperuricosuria
    - kidney stones
    - weakened muscle control
    - mental retardation
26
Q

Gout

  1. Defect
  2. Build up
  3. Manifestation
A
  1. Excess uric acid in the blood
  2. Excess production and deposition of uric acid crystals
  3. Intensely painful and inflamed joints (most commonly in big toe)
27
Q

Vitamin A Deficiency

  1. Cause
  2. Manifestation
A

(Retinol)

  1. Extreme malnutrition, fat absorption issues
  2. Night blindness
28
Q

Vitamin B1 Deficiency

  1. Cause
  2. Manifestation
A

(Thiamine)

  1. Alcoholism
  2. Wernickes, Korsakoffs, Beri Beri
29
Q

Vitamin B3 Deficiency

  1. Cause
  2. Manifestation
A 
(Niacin)
1. Hartnup Disease
2. 4 D's:
Death
Dermatitis
Diarrhea
Dementia
30
Q

Vitamin B5 Deficiency

  1. Cause
  2. Manifestation
A

(Pantothenic Acid)

  1. Extreme starvation
  2. Dermatitis, numbness,
31
Q

Vitamin B6 Deficiency

  1. Cause
  2. Manifestation
A

(Pyroxidine)

  1. Isoniazid therapy
  2. Sideroblastic anemia
32
Q

Vitamin B7 Deficiency

  1. Cause
  2. Manifestation
A

(Biotin)

  1. Raw eggs
  2. Rashes, bowel inflammation, muscle pain
33
Q

Vitamin B9 Deficiency

  1. Cause
  2. Manifestation
A

(Folate)

  1. Alcoholism, pregnancy, drug use
  2. megaloblastic anemia
34
Q

Vitamin C Deficiency

  1. Cause
  2. Manifestation
A

(Ascorbate)

  1. Dvoid of citrus gruits/ greens
  2. Scurvy, increased bleeding
35
Q

Vitamin D Deficiency

  1. Cause
  2. Manifestation
A

(Calcitriol)

  1. Lack of sunlight, poor diet
  2. Rickets, osteomalacia
36
Q

Vitamin B12 Deficiency

  1. Cause
  2. Manifestation
A

(Cobalamin)

  1. Pernicious anemia, pancreatitis
  2. Megaloblastic anemia
37
Q

Vitamin B2 Deficiency

  1. Cause
  2. Manifestation
A

(Riboflavin)

  1. Poor dietary intake
  2. Cheilosis, stomatitis
38
Q

Cystinuria

A
  1. Defect in transport of DIBASIC amino acids (Cystine)
  2. Formation of cystine crystals or kidney stones.
  3. Renal cholic
39
Q

Hartnup Disease

A
  1. Defect in transport of NEUTRAL amino acids (*Tryptophan)
  2. No serotonin , FTT, ataxia, sensitivity to photo light
  3. Treatment: High protein diet
40
Q

Respiratory Acidosis

A

Result of HYPOventilation (rxn shift LEFT)

decrease in blood pH

41
Q

Metabolic Acidosis

A

Result of adding a strong base (i.e. ketone bodies)

42
Q

Respiratory Alkalosis

A

Result of hyperventilation (rxn shift RIGHT)

increase in blood pH

43
Q

Metabolic Alkalosis

A

Result of adding strong base (i.e. antacid)

44
Q

Erythroblastosis Fetalis

A

spontaneous miscarriage when mom is Rh-, and second baby is Rh- after first child was Rh+
Antigens cross placenta and attack fetus

45
Q

Spur Cell Anemia

A

Anemia caused by build up of cholesterol in RBC’s- cells are too rigid and get squished when passing through capillaries and die

46
Q

Lesch-Nyhan Syndrome

A
  1. Defect in HGPRT gene

2. Self mutilation, dystonia, mental retardation

MCM Midterm (3 decks)

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