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SMART 2 > Metabolic Disease and Genetics > Flashcards

Metabolic Disease and Genetics Flashcards

1
Q

Thymic, Parathyroid and Cardiac Defects

A

DiGeorge Syndrome

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2
Q
  1. Cleft Palate
  2. Abnormal Facies
  3. Thymic Aplasia –> T cell deficiency
  4. Cardiac Defects
  5. Hypocalcemia d/t parathyriod aplasia

CATCH 22

A

Microdeletion at Chromosome 22q11

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3
Q

2 yo is presented to ED because of fever and has high pitched crying. Upon physical examination the following are noted:
1. Microcephaly
2. Moderate intellectual disability (can be severe)
3. Epicanthal folds
4. Cardiac abnormalties (VSD)
What is the congenital dz associated with this patient?

A

Cri-du-chat Syndrome

Cry of the cat

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4
Q

What chromosomes are assoc with Robertsonian translocation?

A

Chromosomes 13, 14, 15, 21 and 22

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5
Q

What chromosome is associated with:

  1. von Hippel Lindau dz
  2. Renal Cell Carcinoma
A

Chromosome 3

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6
Q

What dz is associated with chromosome 4?

A
  1. APKD (PKD2)
  2. Achondroplasia
  3. Huntington dz
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7
Q

What chromosome is associated with:

  1. Cri-du-chat syndrome
  2. Familial adenomatous polyposis (FAP)
A

Chromosome 5

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8
Q

What dz is associated with chromosome 6?

A

Hemochromatosis (HFE)

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9
Q

What chromosome is associated with:

  1. Williams Syndrome
  2. Cystic Fibrosis
A

Chromosome 7

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10
Q

What chromosome is associated with:

Friedreich ataxia

A

Chromosome 9

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11
Q

What dz is associated with Chromosome 11?

A
  1. Wilms Tumor
  2. Beta globin gene defects
    a. Sickle cell dz
    b. MEN1
    c. Beta thalassemia
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12
Q

What chromosome is associated with:

  1. Patau syndrome
  2. Wilson dz
  3. Retinoblastoma (RB1)
  4. BRCA2
A

Chromosome 13

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13
Q

What dz is associated with chromosome 15?

A
  1. Prader-willi syndrome
  2. Angelman syndrome
  3. Marfan syndrome
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14
Q

What chromosome is associated with:

A

Chromosome 16

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15
Q

What chromosome is associated with:

  1. APKD (PKD1)
  2. alpha globin gene defects
    a. Alpha thalessemia
A

Chromosome 16

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16
Q

What dz is associated with chromosome 17?

A
  1. Neurofibromatosis 1
  2. BRCA1
  3. p53
  4. Li-Fraumeni
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17
Q

What chromosome is associated with:

Edwards syndrome

A

Chromosome 18

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18
Q

What dz is associated with chromosome 21?

A

Down Syndrome

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19
Q

What chromosome is associated with:

  1. Neurofibromatosis 2
  2. Di George syndrome (22q11)
A

Chromosome 22

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20
Q

What are some x-linked chromosomal dz?

A
  1. Fragile X syndrome (X-LD
  2. X-linked agammaglobulinemia
  3. Klinefelter syndrome (XXY)
  4. Alport Syndrome (X-LD)
  5. Hypophasphatemic Rickets (X-LD)
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21
Q

What is imprinting?

A

At a loci one allele of the gene is inactive (imprinted/inactivated by methylation) and the other active allele is mutated or deleted

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22
Q

What are 2 examples of imprinting?

A

Angelman Syndrome

Prader-willi Syndrome

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23
Q

Which foods should be avoided in a patient with phenylketonuria

A

Foods containing phenylalanine (artificial sweeteners)

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24
Q

How are the genes affected in Angelman syndrome?

A

MATERNAL Gene is mutated/deleted
Paternal Gene is inactivated (silent)
PATERNAL IMPRINTING

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25
Q

What is the clinical presentation associated with Angelman syndrome?

A
  1. Inappropriate laughter (“happy puppet”)
  2. Seizures
  3. Ataxia
  4. Severe Intellectual disability
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26
Q

What is the clinical presentation associated with Prader-willi syndrome?

A
  1. Hyperphagia
  2. Obesity
  3. Intellectual Disability
  4. Hypogonadism
  5. Hypotonia
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27
Q

What us the mode of inheritance when both males and females are affected?

A

Autosomal Dominant

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28
Q

Autosomal Dominant inheritance affects what type of genes?

A

Structural genes

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29
Q

Autosomal recessive inheritance is often related to…..

A

Enzyme deficiency

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30
Q

What mode of inheritance often presents in childhood and has increased risk in consanguineous families?

A

Autosomal Recessive

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31
Q

What is a distinguishing factor associated with Autosomal Recessive mode of inheritance?

A

Often seen in only 1 generation

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32
Q

Which mode of inheritance has features that are more severe in males and the females must be homozygous to be affected?

A

X-linked Recessive

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33
Q

What is a distinguishing feature of X-linked Recessive mode of inheritance?

A
  1. No male to male transmission

2. Skips generations

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34
Q

What are the features associated with X-linked Dominant mode of inheritance?

A
  1. Transmitted through both parents
  2. Fathers transmit to daughters only (ALL)
  3. Fathers do not transmit to sons
  4. Mother transmit to 50% of daughters and sons
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35
Q

What is Hypophosphatemic Rickets aka Vit D rickets?

A

inc Phosphate wasting at proximal tubule –> Rickets like presentation

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36
Q

In which mode of inheritance is genes transmitted only through the mother?

A

Mitochondrial inheritance

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37
Q

In phenylketonuria what enzyme is deficient

A

Phenylalanine hydroxylase

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38
Q

What is the distinguishing feature of mitochondrial inheritance?

A
  1. Heteroplasmy
  2. Does not skip a generation
  3. Clinical presentation is often seen after puberty
39
Q

What becomes essential in Phenylketonuria

40
Q

Treatment for phenylketonuria

A
  1. Decrease phenylalanine and increase Tyrosine in diet

2. Tetrahydrobiopterin supplementation (BH4)

41
Q

What enzyme is deficient is Pompe disease

A

Alpha 1,4 glycosidase

42
Q

In Maple syrup disease which amino acids cant be broken down

A

Branched amino acids (Leucine, isoleucine and valine)

43
Q

What is the enzyme deficient in Cori disease

A

Debranching enzyme (alpha 1,6-gluconidase)

44
Q

BLUISH BLACK connective tissue, ear cartilage and sclerae and urine turns BLACK on prolonged exposure to air

A

Alkaptonuria

45
Q

Pt with cystic fibrosis can also present with what other issue?

A

Contraction alkalosis and hypokalemia

46
Q
  1. Recurrent pulmonary infections
  2. Chronic Bronchitis
  3. Bronchiectiasis
  4. Pancreatic insufficiency
  5. Absence of vas deferens = infertility in men
  6. Liver dz
  7. Biliary Cirrhosis
  8. Nasal Polyps
  9. Clubbing of nails
A

Complications associated with Cystic Fibrosis

47
Q

What is the cause of CYSTINURIA

A

Defect of renal PCT and intestinal amino acid transport

48
Q

Cystinuria leads to the malabsorption fo which amino acid

A

Cystine, Ornithine, Lysine and Arginine (COLA)

49
Q

Who are affected in Mitochondrial inheritance?

A

All offsprings of affected female

50
Q

What is the distinguishing feature of mitochondrial inheritance?

A

Heteroplasmy

51
Q

What is heteroplasmy?

A

Variable expression of a mitochondrially inherited gene within a population or family.

52
Q

Excess cystine in urine leads to the precipitation of which type of stones

A

Hexagonal cystine stones

53
Q

What is the treatment for cystinuria

A
  1. Urinary alkalinization (eg. potassium citrate,
    acetazolamide) ,
  2. good hydration, and
  3. chelating agents ( eg. penicillamine)
54
Q

What are some effects of mitochondrial mode of inheritance?

A

Rare disorders that tend to present with myopathy, lactic acidosis, and CNS dz (neuropathies)

55
Q

What is an example of a clinical presentation of a pt with mitochondrial mode of inheritance of a dz?

A 
1. MELAS Syndrome
      Mitochondrial
      Encephalopathy
      Lactic 
      Acidosis
      Stroke like episodes
2. Red ragged fibers on muscle biopsy
56
Q

What is the diagnostic test for cystinuria

A

Urinary cyanide-nitroprusside test

57
Q

Severe fasting HYPOGLYCEMIA or severe HYPOGLYCEMIA during exercise, Increased GLYCOGEN in the liver, increased blood lactate, triglycerides increased uric cid (gout) and hepatomegaly

A

Von Gierke Disease

58
Q

In Von Gierke disease which enzyme is deficient

A

Glucose-6-phosphatase

59
Q

What is the treatment for Von Gierke Disease

A

Oral glucose/ cornstarch
Avoidance of fructose and galactose
(impaired gluconeogenesis and glycogenolysis)

60
Q

Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance

A

Pompe disease

61
Q

What enzyme is deficient is Pompe disease

A

Alpha 1,4 glucosidase

62
Q

Severe fasting hypoglycemia, increased glycogen in liver, NORMAL LACTATE levels and accumulation of limit dextrin-like structures in cytosol

A

Cori disease (typeIII)

63
Q

What is the enzyme deficient in Cori disease

A

Debranching enzyme (alpha 1,6-gluconidase)

64
Q

What causes Cystic Fibrosis?

A

Defect in CFTR gene on Chromosome 7 –> deletion of Phe508

65
Q

What is the function of the CFTR gene?

A

encodes ATP gated CL channel that secretes CL in lungs and GI tract and reabsorbs CL in sweat glands

66
Q

What is the effect of defect in CFTR gene?

A

dec. CL and H2O secretion
inc. intracellular CL
inc. Na reabsorption
inc. H2O reabsorption ==> abnormally thick mucus in lungs and GI tract

67
Q

Increased glycogen in muscle but muscle cannot break it down leading to painful MUSCLE CRAMPS, MYOGLOBINURIA (red urine) with strenuous exercise

A

McArdle Disease

68
Q

Myoglobinuria (red urine) with strenuous exercise and arrhythmia from electrolyte abnormalities. Second wind phenomenon noted during exercise due to increase muscular blood flow

69
Q

Which enzyme is deficient in McArdle Disease

A

Myophosphorylase

( cannot break down glycogen—-> glucose–1–phosphate

70
Q
  1. Recurrent pulmonary infections
  2. Chronic Bronchitis
  3. Bronchiectiasis
  4. Pancreatic insufficiency
  5. Absence of vas deferens = infertility in men
A

Complications associated with Cystic Fibrosis

71
Q

What is the tx for CF?

A
  1. Chest physiotherapy
  2. Albuterol
  3. Hypertonis saline to facilitate mucus clearance
  4. Azithromycin as anti-inflammatory
  5. Ibuprofen slows dz progress
72
Q

What are the 3 main types of muscular dystrophy?

A
  1. Duchenne MS
  2. Becker
    Myotonic Type 1
73
Q

what the 3 MC autosomal trisomies?

A
  1. Down Syndrome (trisomy 21)
  2. Edwards Syndrome (trisomy 18)
  3. Patau Syndrome (trisomy 13)
74
Q 
Which autosomal trisomy presents with the following: PRINCE
1. Prominent Occiput
2. Rocker-bottom feet
3. Intellectual disbility
4. Non-disjunction
5. Clenched fist (w/ overlapping fingers)
6. low set Ears
Micrognathia
Congenital Heart dz
Death occurs by age 1
A

Edwards Syndrome

75
Q

Progressive neurodegeneration, developmental delay, cherry red spot on macula, NO hepatomegaly

76
Q

What enzyme is deficient in Tay-sach (AR)

A

Hexosaminidase A

77
Q

What substrate in Accumulated in Tay-sachs

A

GM2 ganglioside

78
Q

Episodic peripheral neuropathy, angiokeratomas, hypohidrosis (excessive sweating)

A

Fabry disease

79
Q

What enzyme is deficient in Fabry disease

A

Alpha-galactosidse A

80
Q

What is accumulated in Fabry disease (XR)

A

Ceramide trihexoside

81
Q

Central peripheral demyelination with ataxia and edema

A

Metachromatic leukodystrohy

82
Q

What enzyme is defcient

A

Arysulfatase A

83
Q

What is accumulated metachromatic leukodystrophy

A

Cerebroside sulfate

84
Q

What do you expect to see on labs during pregnancy?

A

Decreased:
1st Trimestor = beta-hcg and PAPP-A
Quad Screen = alpha-fetoprotein, estriol, inhibin A (may be normal)

85
Q

MC cause of Down Syndrome?

A

Mitotic Non-disjunction

86
Q

In Down Syndrome when does mitotic non-disjunction occur?

A

Post fertilization

87
Q

What is zellweger syndrome?

A
  1. Autosomal recessive disorder due to mutated PEX
    gene
  2. Malfunction in peroxisome biogenesis
88
Q

What is the clinical presentation of zellweger syndrome?

A
  1. Hypotonia
  2. Hepatomegaly
  3. Siezures
  4. Early death
89
Q

What is Refsum dz?

A
  1. AR disorder of alpha oxidation
  2. inhibit the metabolism of phytonic acid to pristanic
    acid
90
Q

How does Refsum dz present?

A
  1. Scaly skin
  2. Catarracts –> Night blindness
  3. Ataxia
  4. Shortening of the 4th toe
  5. Epiphyseal dysplasia
91
Q

What is adrenoleukodystrophy?

A 
XLR of beta oxidation -->
VLCR (very long chain fatty acid) buildup in:
1. Adrenal glands
2. White (leuko) matter of the brain
3. Testes
92
Q

What is the Tx for Refsum dz?

A

Diet and Plasmapheresis

93
Q

Progressive adrenoleukodystrophy leads to …

A

Adrenal gland crisis, coma and death

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