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MTM Diseases > Disease Cause Semester 1 > Flashcards

Disease Cause Semester 1 Flashcards

1
Q
  1. Primary Cause of Duschene/Becker Muscular Dystrophy?
  2. Inheritance Pattern?
A
  1. Loss of function/ impaired function mutations in the Dystrophin protein
  2. X-Linked Recessive
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2
Q
  1. Primary cause of Tay-Sachs Disease?
  2. Inheritance Pattern?
A
  1. Mutation in HEXA gene which encodes for beta- hexoaminadase A, a lysosomal enzyme. Leading to accumulation of GM2 ganglioside
  2. Autosomal Recessive, a Sphingolipidoses
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3
Q
  1. Primary cause of Metachromatic Leukodystrophy?
  2. Inheritance Pattern? Disease Classification?
A
  1. Deficiency in ARSA gene which encodes Arylsulfatase A a lysosomal enzyme, leading to accumulation of sulfatides.
  2. Autosomal Recessive, a Sphingolipidosis
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4
Q
  1. Primary Cause of Cystic Fibrosis?
  2. Inheritance Pattern?
A
  1. Mutation in the CFTR genes, encodes for a ATP-gated Chloride Channel.
  2. Autosomal Recessive
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5
Q
  1. Primary Cause of I-Cell Disease?
  2. Inheritance Pattern? Disease Classification?
A
  1. Deficiency in the Golgi prevents formation of the M6P (mannose-6 phosphate tag), leads to deficiency in almost all lysosomal enzymes.
  2. Recessive defects patients do not reproduce. A Mucolipidoses
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6
Q
  1. Primary Cause of Hurler Syndrome?
  2. Inheritance Pattern? Disease Classification?
A
  1. Defective alpha-L-Iduronidase enzyme, leads to accumulation of Heparan/dermatan sulfate
  2. Autosomal Recessive, a type of Mucopolysaccharidosis
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7
Q
  1. Primary cause of Hunters Syndrome?
  2. Inheritance Pattern? Disease classification?
A
  1. Defective Iduronate-2-sulfatase enzyme, leads to accumulation of Heparan/dermatan sulfate
  2. X-linked, a type of Mucopolysaccharidosis
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8
Q
  1. Primary Cause of Sickle Cell Disease?
  2. Inheritance Pattern?
A
  1. Mutated Beta-globin gene, leading to accumulation of Hemoglobin S leading to sickle-shaped erythrocytes. Normal individuals have Hemoglobin A
  2. Autosomal Recessive
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9
Q
  1. Primary Cause of Achondroplasia?
  2. Inheritance Pattern? Disease classification?
A
  1. Mutation in the FGFR3 gene, encodes Fibroblastic Growth Factor 3
  2. Autosomal Dominant (Structural Gene), Collagen Disorder
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10
Q
  1. Primary Cause of Marfan’s Syndrome?
  2. Inheritance Pattern? Disease Classification?
A
  1. Mutation in FBN1, encodes for Fibrillin an elastin scaffold protein
  2. Autosomal Dominant (Structural Gene), Collagen Disorder
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11
Q
  1. Primary Cause of Osteogenesis Imperfecta?
  2. Inheritance Pattern? Disease Classification?
A
  1. Mutations is Type I Collagen, range of phenotypes from mild -> lethal , always blue sclera (white of the eyes)
  2. Autosomal Dominant (structural), Collagen Disorder
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12
Q
  1. Primary Cause of Ehlers-Danlos Syndrome?
  2. Inheritance Pattern? Disease Classification?
A
  1. Primarily caused by Type V Collagen mutation, a fibrillar collagen
  2. Autosomal Dominant, Collagen Disorder
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13
Q
  1. Primary Cause of Alport Syndrome?
  2. Inheritance Pattern? Disease Classification?
A
  1. Mutation of Type IV Collagen (Sheet/Network collagen of the basal lamina)
  2. Autosomal Dominant, Collagen Defect
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14
Q
  1. Primary Cause of Goodpasture Syndrome?
  2. Inheritance Pattern? Disease Classification?
A
  1. An Autoimmune disease that targets antibodies at Type IV Collagen
  2. Autoimmune Environmental/Genetic Predisposition, Autoimmune Disorder
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15
Q
  1. Cause of Epidermolysis Bullosa?
  2. Inheritance Pattern? Disease Classifiction?
A
  1. Dystrophic EB -> Mutation in Type VII Collagen (Anchoring Collagen) Most severe at lowest layer. Severity increases as you go deeper in the epidermis.
  2. AD/AR, recessive more severe, Collagen Disorder
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16
Q
  1. Primary Cause of Pemphigus Vulgaris?
  2. Inheritance Pattern? Disease Classification?
A
  1. Caused by auto-antibodies against desmosomal Cadherins
  2. Autoimmune Disorder, environmental/genetic predisposition.
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17
Q
  1. Primary Cause of Charcot-Marie-Tooth Neuropathy?
  2. Inheritance Pattern? Disease Classification?
A
  1. Caused by lack of Connexin-32 protein a gap junction protein
  2. X-linked and Autosomal Dominant forms, Peripheral Neuropathy
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18
Q
  1. Primary Cause of Bullous pemphigoid?
A

Auto-antibodies against hemidesmisomal protein

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19
Q
  1. Acute Pancreatitis Symptoms?
  2. Pathogenesis?
  3. Diagnosis? What to look for basically?
A
  1. Abdominal Pain, Tachycardia, Nausea/Vomiting
  2. Autodigestion of Pancreatic tissue by activated pancreatic enzymes
  3. Increase amylase concentration in plasma and saliva
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20
Q
  1. What is the primary cause of De Vivo Disease?
  2. Inheritance Pattern?
  3. Symptoms?
A
  1. Defect in the GLUT1 Transporter
  2. Autosomal Dominant
  3. Refractory Infantile Seizures, Microcephaly, Motor Dysfunction
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21
Q
  1. Primary Cause of Fanconi Bickel Syndrome? (AKA Glycogen Storage Disease XI)
  2. Inheritance?
  3. Symptoms?
A
  1. Defect in GLUT2 Transporter
  2. Autosomal Recessive
  3. Hepatomegaly, Hyperglycemia, Failure to Thrive,
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22
Q
  1. Primary Cause of Beriberi?
  2. Symptoms in Adults?
  3. Symptoms in Children?
A
  1. Severe Vitamin B1 Deficiency (Thiamine) in areas where polished rice is major diet.
  2. Wet Beriberi- affects the cardiovascular system
    Dry Beriberi- affects the nervous system
  3. During breast feeding by Vitamine B1 deficient mothers, tachycardia, vomiting, convulsions.
23
Q
  1. Primary cause of Wernicke-Korsakoff Syndrome?
  2. Symptoms?
A
  1. Vitamin B1 (Thiamine) Deficiency due to chronic alcoholism, ethanol blocks thiamine absorption.
  2. Damage to medial dorsal nucleus, mammillary bodies
    Confusion, personality changes, encepholopathy
24
Q
  1. Primary Cause of Pellagra?
  2. Symptoms?
A
  1. Dietary Vitamin B3 Deficiency (NAD+)
  2. Symptoms 3Ds -> Diarrhea, dermatitis, dementia, also Glossitis (tongue inflammation)
25
Q
  1. Primary Cause of Hartnup Disease?
  2. Symptoms?
A
  1. Defect in absorption of non-polar amino acids including Tryptophan, a precursor for Vitamin B3
  2. Similar presentation as Pellagra (Diarrhea, Dermatitis, Dementia), also Aminoaciduria
26
Q

Vitamin B2 Deficiency (FAD, Flavin) Symptoms?

A

UV Light Sensitivity, Burning Eyes, Corneal Vascularization (Bloodshot eyes)

27
Q
  1. Cause of Arsenic Poisoning?
  2. Symptoms?
A
  1. Arsenic is a suicide inhibitor of the Pyruvate dehydrogenase complex. Forms a stable bond with the SH- of Lipoic Acid
  2. Garlic Breath, Skin pigmentation changes, Skin Cancer
    Fun FactArsenic found in ground water and pesticides
28
Q
  1. PDH Deficiency Cause/Inheritance?
  2. Symptoms
  3. Treatment
A
  1. X-linked dominant deficiency in E1 subunit of Pyruvate Dehydrogenase Complex
  2. Neurodegeneration, Lactic Acidosis, Early death
  3. Treatment is a ketogenic diet
29
Q
  1. Primary Cause of Lactic Acidosis?
A
  1. Usually caused by high concentration of NADH, prevents Pyruvate oxidation and directs it towards Lactate. Normal Lactate conc. (0.5-2.2 moles/L)

Caused by high alcohol consumption (increases NADH), hypoxia of any tissue (no oxygen -> anaerobic), Electron Transport Chain defects/inhibitors, Vitamin B1 deficiency, Mitochondrial disorders. **All of these cause issues with Pyruvate usage and body has to get rid of Pyruvate so lactate dehydrogenase is the path to go. **

30
Q
  1. Symptoms of Glucose 6-Phosphate Dehydrogenase Deficiency?
  2. Inheritance?
A
  1. Increased oxidative stress, reduced NADPH production, RBC Hemolysis due to Heinz Body (denatured hemoglobin) accumulation.
  2. X-Linked Recessive, Absence of G6PD enzyme.
  3. Fava Beans can cause oxidative problems in these individuals.
31
Q
  1. Primary Cause of Essential Fructosuria?
  2. Symptoms?
  3. Inheritance Pattern?
A
  1. Caused by deficiency in Fructose Kinase Enzyme.
  2. Excretion of Fructose in urine, Recurrent UTIs and Dehydration
  3. Autosomal Recessive
32
Q
  1. Primary Cause of Hereditary Fructose Intolerance?
  2. Symptoms?
  3. Inheritance Pattern?
A
  1. Deficiency in Aldolase B Enzyme. Accumulation of Fructose 1-Phosphate
  2. When fructose introduced into diet, **Hypoglycemia, Metabolic Acidosis, nausea/vomiting. **
  3. Autosomal Recessive
33
Q
  1. Primary Cause of Non-Classical Galactosemia?
  2. Symptoms?
  3. Inheritance Pattern?
A
  1. Deficiency in Galactokinase (GALK) Galactose -> Galactose 1-Phosphate
  2. Early Onset Cataracts first few months of life (Cloudy Lens)
  3. Autosomal Recessive, begins with consumption of breast milk
34
Q
  1. Primary Cause of Classical Galactosemia (GALT)?
  2. Symptoms?
  3. Inheritance Pattern?
A
  1. Deficiency in GALT Enzyme. Galactose 1-Phosphate -> Glucose 1-Phosphate
  2. Accumulation of Galactose1Phosphate causes Osmotic Damage, Cataracts, Liver damage, Brain damage, Hypoglycemia
  3. Autosomal Recessive
35
Q
  1. Primary Cause of Essential Pentouria?
  2. Symptoms?
  3. Inheritance Pattern?
A
  1. Deficiency in Xylitol Dehydrogenase Enzyme. L-Xylulose -> Xylitol
  2. Excretion of large quantities of L-Xylulose in urine.
  3. Autosomal Recessive
36
Q

Cause, pathogenesis, and symptoms of Hartnup Disease?

37
Q

Cause, pathogenesis, and symptoms of Cystinuria?

38
Q
  1. Primary Cause of Ornithine transcarbamylase deficiency?
  2. Symptoms?
  3. Inheritance pattern?
A
  1. Defect in Ornithine transcarbamylase (OTC) enzyme
39
Q
  1. Primary cause of Carbamoyl Phosphate Synthetase 1 deficiency?
  2. Symptoms?
  3. Inheritance Pattern?
A
  1. Defect in CPS1 enzyme.
40
Q

Cause, symptoms, and inheritance of Albinism?

41
Q

Cause, symptoms, inheritance of Histadinemia?

A

Cause:
• Deficiency of Histidase
Phathobiochemistry:
• Histidine undergoes transamination, forms imidazole pyruvate, imidazole lactate, imidazole acetate
Symptoms:
• Most patients remain asymptomatic
• May lead to hyperactivity, speech impediment, developmental delay, intellectual disability
Diagnosis:
• Sweat urocanate levels decreased, FIGLU excretion decreased
• Increased levels of histidine, histamine and imidazole

42
Q

Cause, Symptoms, Inheritance of Homocystinuria?

A

Symptoms Symptoms:
• Homocysteine in urine,
• Tall stature
• Kyphosis
• lens subluxation (downward and inward)
• Intellectual disability
• Osteoporosis
• Thrombosis and atherosclerosis (stroke and MI)

43
Q

Cause, Symptoms, Inheritance of Proprionic acidemia?

44
Q

Cause, Symptoms, Inheritance of Methylmalonic acidemia?

45
Q

Cause, Symptoms, Inheritance of Maple Syrup Urine Disease (MSUD)?

A

Cause:
• partial or complete loss of Branched chain a- ketoacid dehydrogenase
• Autosomal recessive
Phathobiochemistry:
• Accumulation of Leucine, Isoleucine and Valine - toxic effect on the brain
• Hypoglycemia – due to decreased acetyl co-A
• Hyperammonemia - accumulation of CoA derivatives of organic acids inhibit the N-acetylglutamate
(activator of CPS1 in liver)
Classification:
• Classical MSUD – little or no enzyme activity – infants show symptoms within first few days
• Intermediate & intermittent forms – some enzyme activity (3-15 %) – milder disease and later onset • Thiamine-responsive form – large doses of thiamine help to increased enzyme activity

46
Q

Cause, Symptoms, Inheritance of Isovaleric acidemia?

47
Q

Cause, Symptoms, Inheritance of Alkaptonuria aka Black Urine Disease?

A

Symptoms:
• Homogentisic aciduria
• Urine turns black after exposure to air
• Ear wax exposed to air turns red or black
• Ochronosis (pigmentation) of cartilage leading to
osteoarthritis – precocious lower back pain, and large joint
arthritis
• **May be symptomless until aged 40+: **arthritis, but disease may be recognized earlier by black-soiled diapers

48
Q

Cause, Symptoms, and Inheritance of Type 1 Tyrosinemia?

49
Q

Cause, Symptoms, and Inheritance of Type 2 Tyrosinemia?

50
Q

Cause, Symptoms, Inheritance of Classic Phenylketouria (PKU)?

A

Cause:
• deficiency of Phenylalanine Hydroxylase
• Autosomal recessive defect in PAH gene (1 in 10,000 Caucasians)
Phathobiochemistry:
• accumulation of phenylalanine (PA) → alternative phenylalanine metabolism → formation of metabolites: phenylacetate, and phenylpyruvate
• deficiency of tyrosine
• deficiency of neurotransmitters, melanin

51
Q

Cause, Symptoms, and Inheritance of Non-PKU Hyperphenylalaninemia (aka Malignant PKU)

A

Cause:
• deficiency of Dihydropteridine reductase (BH4)
• Autosomal recessive
Phathobiochemistry:
• BH4 is required for Phenylalanine hydroxylase, Tyrosine hydroxylase and Tryptophan hydroxylase (synthesis of Serotonin, Dopamine, Epi and NE)
• High levels of Prolactin (Dopamine tonically inhibits Prolactin secretion by inhibition of lactotrophs)

52
Q

Cause, Symptoms, Inheritance of Chronic Granulomatous Disease?

A

Deficiency in NADPH Oxidase, can’t make Super Oxide so impaired respiratory burst.

X-linked recessive. Increased infections by catalase positive organisms

53
Q

Cause, symptoms, and inheritance of Myeloperoxidase Deficiency?

A

Deficiency in Myeloperoxidase, makes H202 (bleach), increased risk of candida (fungal) infections. Autosomal Recessive.

MTM Diseases (3 decks)

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