MCM Diseases Flashcards
1
Q
Nieman Pick Disease
- Deficiency
- Build up
- Clinical features
A
- Acid spingomyelinase
- SM buildup in bone marrow, liver, CNS
- Cherry red spot on back of retina
2
Q
Cystic- Fibrosis
- Deficiency
- Build up
- Clinical Features
A
- Mutation in CFTR gene
- Chloride buildup
- Salty sweat, build up of mucus in airways
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
4
Q
Tarui Disease GSD VII
A
- PFK-1 deficiency
2. Exercise induced muscle cramps, hemolytic anemia, high bilirubin, jaundice
5
Q
Von Gierke Disease
- Defective enzyme
- Pathway affected
A
GSD I
- G6P (glucose-6-phosphate)
- Glycogenolysis/ gluconeogenesis (dephosphorylation of GLC 6-P to GLC)
6
Q
Pompe Disease
- Defective enzyme
- Pathway affected
A
GSD II
- Acid Maltase
- Lysosomal glycogenolysis (release of GLC)
* Therapy treatment- enzyme replacement, a-glucosidase delivered via IV
7
Q
Cori Disease
- Defective enzyme
- Pathway affected
A
- Debranching enzyme (a-1,6-glucosidase activity)
2. Glycogenolysis (GLC cleavage and release from branch point)
8
Q
Anderson Disease
ABCD
A
GSD IV
- Glucosyl (4:6) Transferase (branching)
- Glycogen branching
9
Q
McArdle Disease
A
GSD V
- Glycogen phosphorylase
- Glycogenolysis
* MUSCLE
10
Q
Hers Disease
A
GSD VI
- Glycogen phosphorylase
- Glycogenolysis
* LIVER
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
12
Q
Fanconi-Bickel Syndrome
- Deficiency
- Result
A
- Mutuation in GLUT 2 transporter
- Unable to take up glucose, galactose, fructose
failure to thrive, hepatomegaly, rickets, tubular nephropathy, abdominal bloating
Treatment: Vitamin D, phosphate, uncooked corn starch
13
Q
Galactosemia
- Deficiency
- Result
A
- Glucose 1P uridyltransferase (GALT)
- 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)
14
Q
Type II Diabetes
A
Insulin Resistance
- Mutations in insulin receptor and/or downstream signaling proteins
- BGL >126mg/dL
15
Q
GSD 0
A
- Glycogen synthase
- Cannot synthesize glycogen
(muscle cramps, rely on glucose, need to eat frequently)
16
Q
Succinyl- CoA Synthetase Deficiency (SCS)
A
Mutations of subunits that make up SUCLA/2
17
Q
Mitochondrial Depletion Syndrome
A
Associated with: Profound hypotonia Progressive dystonia Muscular atrophy Severe sensory neural hearing imparment
18
Q
Mitochondrial Diseases
- Primary cause
- Secondary cause
- Manifestations
A
- Defect in mito DNA
- Cardio diseases, renal failure, alcohol, smoking, ischemia, reperfusion
- Nervous, Heart, Skeletal muscle, vision
- low energy production
- increased free radical production
- lactic acidosis
19
Q
MCAD Deficiency
- Deficiency
- Effected Pathway
- Manifestation
A
- MCAD defect- impaired breakdown of MCFA’s
- FA B-oxidation
- 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)
- Deficiency
- Manifestation
- Treatment
A
- Deficient in BCKD (branched chain a-keto aciddehydrogenase complex
- Branched-chain amino acids in urine- maple urine smell
- synthetic diet limited BCAA (Valine, Leucine, Isoleucine)
22
Q
Phenylketouria
- Defects
- Manifestation
- Treatment
A
- Defect in Phenylalanine hydroxylase (PAH) activity
- musty odor in urine
- Impairment of brain function - Dietary limit Phe
23
Q
Albinism
- Deficiency
- Defect
- Manifestation
A
- Tyrosinase enzyme
- Severe lack of melanin (tyrosine can’t convert to melanin)
- Partial or complete absence of pigmentation in skin, hair, eyes
24
Q
Ammonia Toxicity
- Deficiency
- Defect
- Manifestation
A
- Excessive ammonia due to Uric acid cycle disorders
- pH imbalance, mitochondrial dysfunction
- Toxic effects on brain, CNS
25
Lesch-Nyhan Syndrome
1. Defect
2. Build up
3. Manifestation
1. HGPRT enzyme in purine salvage pathway
2. Overproduction of uric acid
3. Hyperuricemia, hyperuricosuria
- kidney stones
- weakened muscle control
- mental retardation
26
Gout
1. Defect
2. Build up
3. Manifestation
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
Vitamin A Deficiency
1. Cause
2. Manifestation
(Retinol)
1. Extreme malnutrition, fat absorption issues
2. Night blindness
28
Vitamin B1 Deficiency
1. Cause
2. Manifestation
(Thiamine)
1. Alcoholism
2. Wernickes, Korsakoffs, Beri Beri
29
Vitamin B3 Deficiency
1. Cause
2. Manifestation
```
(Niacin)
1. Hartnup Disease
2. 4 D's:
Death
Dermatitis
Diarrhea
Dementia
```
30
Vitamin B5 Deficiency
1. Cause
2. Manifestation
(Pantothenic Acid)
1. Extreme starvation
2. Dermatitis, numbness,
31
Vitamin B6 Deficiency
1. Cause
2. Manifestation
(Pyroxidine)
1. Isoniazid therapy
2. Sideroblastic anemia
32
Vitamin B7 Deficiency
1. Cause
2. Manifestation
(Biotin)
1. Raw eggs
2. Rashes, bowel inflammation, muscle pain
33
Vitamin B9 Deficiency
1. Cause
2. Manifestation
(Folate)
1. Alcoholism, pregnancy, drug use
2. megaloblastic anemia
34
Vitamin C Deficiency
1. Cause
2. Manifestation
(Ascorbate)
1. Dvoid of citrus gruits/ greens
2. Scurvy, increased bleeding
35
Vitamin D Deficiency
1. Cause
2. Manifestation
(Calcitriol)
1. Lack of sunlight, poor diet
2. Rickets, osteomalacia
36
Vitamin B12 Deficiency
1. Cause
2. Manifestation
(Cobalamin)
1. Pernicious anemia, pancreatitis
2. Megaloblastic anemia
37
Vitamin B2 Deficiency
1. Cause
2. Manifestation
(Riboflavin)
1. Poor dietary intake
2. Cheilosis, stomatitis
38
Cystinuria
1. Defect in transport of DIBASIC amino acids (Cystine)
2. Formation of cystine crystals or kidney stones.
3. Renal cholic
39
Hartnup Disease
1. Defect in transport of NEUTRAL amino acids (*Tryptophan)
2. No serotonin , FTT, ataxia, sensitivity to photo light
3. Treatment: High protein diet
40
Respiratory Acidosis
Result of HYPOventilation (rxn shift LEFT)
| decrease in blood pH
41
Metabolic Acidosis
Result of adding a strong base (i.e. ketone bodies)
42
Respiratory Alkalosis
Result of hyperventilation (rxn shift RIGHT)
| increase in blood pH
43
Metabolic Alkalosis
Result of adding strong base (i.e. antacid)
44
Erythroblastosis Fetalis
spontaneous miscarriage when mom is Rh-, and second baby is Rh- after first child was Rh+
Antigens cross placenta and attack fetus
45
Spur Cell Anemia
Anemia caused by build up of cholesterol in RBC's- cells are too rigid and get squished when passing through capillaries and die
46
Lesch-Nyhan Syndrome
1. Defect in HGPRT gene
| 2. Self mutilation, dystonia, mental retardation
