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M2M Unit II > Abnormalities & Diseases > Flashcards

Abnormalities & Diseases Flashcards

1
Q

What is another name for Trisomy 21?

A

Down Syndrome

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2
Q

What is another name for Trisomy 13?

A

Patau Syndrome

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3
Q

What is another name for Trisomy 18?

A

Edwards Syndrome

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4
Q

What is Klinefelter Syndrome?

A

47, XXY

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5
Q

What is the phenotype of Kinefelter Syndrome?

A

Tall stature, hypogonadism, gynecomastia, infertile, language impairment

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6
Q

What is the phenotype of 47,XYY Syndrome

A

Indistinguishable physically or mentally from normal males and are usually fertile; increased risk of behavioral and educational problems, delayed speech and language

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7
Q

What is Turner Syndrome?

A

45,X

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8
Q

What is the phenotype of Turner Syndrome?

A

Short stature, webbed neck, edema of hands and feet, broad shield chest, renal/cardio anomalies, failure in ovarian development

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9
Q

What is the event that leads to Velocardiofacial syndrome?

A

Deletion of a gene on chromosome 22

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10
Q

What is the event that leads to Velocardiofacial syndrome?

A

Deletion of a gene on chromosome 22

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11
Q

What causes Prader-Willi Syndrome, genetically?

A

A deletion in the paternal 15q11-13

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12
Q

What causes Angelman Syndrome, genetically?

A

A deletion in the maternal 15q11-13

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13
Q

Angelman syndrome is caused by defects in the expression of what? What does it do?

A

UBE3A; encodes a ubiquitin ligase involved in early brain development

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14
Q

Prader-Willi syndrome is caused by defects in the expression of what genes?

A

SNORD116 snoRNA genes

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15
Q

How can Prader-Willi Syndrome result from uniparental disomy?

A

If the maternal is disomic fro chromosome 15 and the father has a normal chromosome 15, this results in incompatible with life trisomy 15; but if there’s mitotic disjunction early during development, fetus is rescued but if it has just the remaining two maternal chromosomes, it will have Prader-Willi.

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16
Q

Is Chediak-Higashi Syndrome autosomal recessive or dominant?

A

Recessive

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17
Q

Chediak-Higashi Syndrome causes problems with what?

A

Lysosomal trafficking

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18
Q

What is the phenotype of Chediak-Higashi Syndrome?

A

Partial oculocutaneous albinism, light hair, immunodeficiency, mild-bleeding tendency, variable cognitive impairment, neuropathy, ataxia, and parkinsonism

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19
Q

What is the expressivity of Chediak-Higashi Syndrome?

A

Variable severity of symptoms with neurological manifestations from childhood to early adulthood

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20
Q

In cancer, does low hypodiploidy indicate a poor or good prognosis?

A

Poor prognosis

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21
Q

In cancer, does high hypodiploidy indicate a poor or good prognosis?

A

Good prognosis

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22
Q

Why does high hypodiploidy in cancer indicate a good prognosis?

A

A gain of chromosomes can mean more GFs –> Tumor Suppressor Genes are not lost

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23
Q

What tests can be used to diagnose Prader-Willi?

A

FISH or microarray

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24
Q

What specific opthalmologic problems are common in patients with Prader-Willi?

A

Strabismus & Nystagmus

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25
Q

What is a common treatment for Prader-Willi?

A

Growth hormone

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26
Q

What is the phenotype of maternally inherited 15q interstitial duplication cause?

A

Autism, NOT dysmorphic, hypotonic, seizures

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27
Q

What does isodicentric isochromosome 15q (IDIC 15) cause?

A

Autism, NOT dysmorphic, hypotonic, seizures

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28
Q

What are supernumerary marker chromosomes?

A

Inverted duplicated isodicentric 15q

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29
Q

How can Angelman Syndrome be diagnosed?

A

FISH, UPD of 15q, or imprinting errors of 15q detected with methylation studies

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30
Q

What is the phenotype of Angelman Syndrome?

A

Mildly dysmorphic facial features, hypotonia, spasticity, intellectual disability, seizures, autism

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31
Q

What percentage of all DS cases is due to Trisomy 21?

A

95%

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32
Q

What percentage of all DS cases is due to an unbalanced translocation between chromosome 21 and another acrocentric chromosome?

A

3-4%

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33
Q

What percentage of all DS cases is due to mosaic trisomy 21?

A

1-2%

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34
Q

How can a fetus be tested for DS during the first trimester?

A

Ultrasound measurement of nuchal folds + beta-hCG + PAPP-A

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35
Q

How can a fetus be tested for DS during the second trimester?

A

beta-hCG, aFP, unconjugated estriol, and inhibin levels

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36
Q

What are common medical issues associated with DS?

A

Cardiac, gastrointestinal, opthalmologic, EENT, endocrine, orthopedic, hematologic, developmental, neurologic, psychiatric

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37
Q

Approximately what percentage of patients with DS present with cardiac issues?

A

50% - atrioventricular canal is common

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38
Q

Approximately what percentage of patients with DS present with structural gastrointestinal anomalies?

A

10-15% - esophageal atresia, duodenal atresia, Hirschsprung’s

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39
Q

What kind of functional GI issues do many children with DS present with?

A

Feeding problems, constipation, GERD, Celiac

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40
Q

What kind of opthalmologic problems do many children with DS present with?

A

Blocked tear ducts, myopia, lazy eye, nystagmus, cataracts

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41
Q

What kind of EENT problems do many children with DS present with?

A

Chronic ear infections, deafness, chronic nasal congestion, enlarged tonsils and adenoids (obstructive apnea)

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42
Q

What kind of endocrine problems do many children with DS present with?

A

Hypothyroidism, insulin dependent diabetes, alopecia areata, reduced fertility

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43
Q

What kind of orthopedic problems do many children with DS present with?

A

Hips, joint subluxation, atlantoaxial subluxation

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44
Q

What kind of hematologic problems do many children with DS present with?

A

Myeloproliferative disorder, leukemia risk, iron deficiency anemia

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45
Q

What kind of developmental problems do many children with DS present with?

A

Hypotonia, intellectual disability, speech problems

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46
Q

What kind of neurologic problems do many children with DS present with?

A

Hypotonia, seizures

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47
Q

What kind of psychiatric problems do many children with DS present with?

A

Depression, early Alzheimer’s, autism (10%)

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48
Q

What is the karyotype of patients with Turner Syndrome?

A

45, X

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49
Q

What are some abnormalities of the cardiovascular system in a patient with Turner Syndrome?

A

Bicuspid aortic valve, coarctation of the aorta, systemic hypertension, prolonged QTc Syndrome, partial anomalous pulmonary venous connection, persistent left SVC

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50
Q

What are some abnormalities of the eye in patients with Turner’s syndrome?

A

Inner canthal folds, ptosis, blue sclera

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51
Q

What are some abnormalities of the skeletal system in patients with Turner’s syndrome?

A

Cubitus valgus, short 4th metacarpal, short stature

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52
Q

What are some abnormalities of the neck in patients with Turner’s syndrome?

A

Webbed neck, low hairline, cystic hygroma

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53
Q

What are some learning abnormalities in patients with Turner’s syndrome?

A

Math difficulty, visual spatial skills, low non verbal scores

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54
Q

What is the disease classification of PKU (phenylketonuria)?

A

Autosomal recessive

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55
Q

What are four phenotypes of PKU?

A

High phenylalanine in blood and phenylalanine metabolites in the urine, hyperactivity and epilepsy, mental retardation and microcephaly

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56
Q

PKU is a defect in what?

A

PAH (phenylalanine hydroxylase) (>98%) or defects in the PAH cofactor BH4 (tetrahydrobiopterin) (1-2%)

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57
Q

PAH converts what to what?

A

phenylalanine to tyrosine

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58
Q

How are newborns screened for PKU?

A

Tandem Mass Spectrometry (MS?MS) which sorts molecules in blood specimen by size, weight, and quantity. Fast detection and high sensitivity.

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59
Q

What is the main treatment of PKU?

A

Low phenylalanine diet. Other possibilities include BH4 supplementation, neutral amino acid supplementation, ERT, gene therapy.

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60
Q

What population is most at risk for α1-antitrypsin deficiency (ATD)?

A

people with Northern European ancestry

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61
Q

When is ATD usually diagnosed and what does it affect?

A

Later in life; lung & liver

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62
Q

What is α1-antitrypsin and what does it do?

A

A protease inhibitor of the serine protease elastase, which is released by activated neutrophils at the airway, destroying elastin in the connective tissues

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63
Q

Where is α1-antitrypsin made and where does it go?

A

Made in liver and travels to lungs through the blood.

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64
Q

Of two mutant alleles in α1-antitrypsin, Z & S, which genotypes causes the lowest amount of normal SERPINA1 levels?

A

Z/Z genotype has ~15% normal SERPINA1 level

S/S genotype has 50-60% normal SERPINA1 level

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65
Q

What is the treatment for ATD?

A

Treatment for lung disease (COPD): inhaled bronchodilators and inhaled steroids, vaccinations against flu/pneumonia, pulmonary rehab oxygen, lung transplant

Treatments in development: ERT, gene therapy, release of misfolded AAT protein from liver to blood

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66
Q

What is the disease classification of α1-antitrypsin deficiency?

A

Autosomal Recessive

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67
Q

What is the disease classification of Tay-Sachs Disease?

A

Autosomal Recessive

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68
Q

Tay-Sachs Disease (Gm2 gangliosidosis type I) causes the progressive destruction of what?

A

The central nervous system

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69
Q

What is the lifespan of a patient with Tay-Sachs?

A

~2-4 years of age

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70
Q

What is the biochemical defect of Tay-Sachs Disease?

A

A lysosomal storage disorder with >300xs accumulation of Gm2 ganglioside in the lysosome.

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71
Q

Tay-Sachs Disease is usually caused by a mutation in what gene? What is this gene responsible for?

A

Mutation in HEXA gene which makes the alpha subunit of teh enzyme hexosaminidase A which degrades Gm2 ganglioside.

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72
Q

Mutation in the HEXB gene causes which disease?

A

Sandhoff disease

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73
Q

What enzyme is defected in Tay-Sachs?

A

Hexosaminidase A

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74
Q

What is the disease classification of Achondroplasia?

A

Autosomal dominant

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75
Q

What is the disease classification of Huntington’s Disease?

A

Autosomal dominant

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76
Q

What is the disease classification of Tuberous Sclerosis?

A

Autosomal dominant

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77
Q

What is the disease classification of Marfan Syndrome?

A

Autosomal dominant

78
Q

What is the disease classification of Retinoblastoma?

A

Autosomal dominant

79
Q

What is the disease classification of Von Willebrand Disease?

A

Autosomal dominant

80
Q

What is the disease classification of Hereditary hemorrhagic telengiactasia?

A

Autosomal dominant

81
Q

What is the disease classification of Adult Polycystic kidney disease?

A

Autosomal dominant

82
Q

What is the disease classification of Neurofibromatosis?

A

Autosomal dominant

83
Q

What kind of penetrance does achondroplasia have?

A

Complete penetrance

84
Q

What is the new mutation rate of achondroplasia?

A

80%

85
Q

What are the clinical manifestations of achondroplasia?

A

Short stature, rhizomelic limb shortening, short fingers, genu varum, large head/frontal bossing, midfacia retrusion, small foramen magnum

86
Q

Where is the mutation in achondroplasia?

A

FGFR3 (fibroblast growth factor receptor 3)

87
Q

Does parental age affect de novo autosomal dominant mutations rates?

A

Yes; paternal age effect (achondroplasia & more)

88
Q

What is the mutation of Neurofibromatosis Type 1?

A

Mutation in NF1 (neurofibromin - tumor suppressor gene) on chromosome 17q11.2

89
Q

What is the mutation of osteogenesis imperfecta type 1?

A

Mutation in COL1A1 (collagen type 1 alpha 1) on chromosome 7q21.3 - reduced production of pro-alpha 1 chains that reduces the type 1 collagen production by half

90
Q

What is the new mutation rate of Marfan Syndrome?

A

25%

91
Q

What are the clinical manifestations of Marfan Syndrome?

A

Systemic disorder of connective tissue, ocular, skeletal, CV

92
Q

What is the mutation of Marfan Syndrome?

A

FBN1 (fibrillin-extracellular matrix protein) on chromosome 15q21.1

93
Q

What is the new mutation rate of Autosomal Dominant Polycystic Kidney Disease?

A

5%

94
Q

What is the mutation in Autosomal Dominant Polycystic Kidney Disease

A

PKD which makes polycystin 1 and 2; produces a truncated protein

95
Q

What are the clinical manifestations of Autosomal Dominant Polycystic Kidney Disease?

A

Bilateral renal cysts, cysts in other organs, end stage kidney disease, vascular abnormalities

96
Q

What is the new mutation rate of Familial Hypercholesterolemia?

A

Very low!

97
Q

What are the three genes whose mutations are known to cause Familial Hypercholesterolemia?

A

LDLK, APOB, PCSK9

98
Q

What are the clinical manifestations of Familial Hypercholesterolemia?

A

High cholesterol and LDL levels, xanthomas, premature coronary artery disease and death

99
Q

What are unique features of Trinucleotide Repeat Disorders?

A

Anticipation, expansion of a DNA segment consisting of 3+ nucleotides, slipped mispairing, parental transmission bias, AD, AR, and X-linked transmission

100
Q

Define Huntingotn Disease

A

Trinucleotide repeat disorder of CAG - paternally transmitted with anticipation

101
Q

What are the clinical manifestations of Huntington Disease?

A

Progressive neuronal degeneration causing motor, cognitive, and psychiatric disturbances.

102
Q

What gene is mutated in Huntington Disease?

A

HTT which codes for Huntingtin protein on chromosome 4p16.3

103
Q

How many CAG repeats are needed for full penetrance of Huntington Disease?

A

> 39

104
Q

Define Myotonic Dystrophy Type 1

A

Autosomal dominant trinucleotide repeat disorder of CTG; anticipation & maternally transmitted

105
Q

What are the clinical manifestations of Myotonic Dystrophy Type 1?

A

Adult onset muscular dystrophy, progressive muscle weakness and wasting, myotonia, cataracts, cardiac conduction defects

106
Q

What is the mutation in Myotonic Dystrophy Type 1?

A

Mutation in DMPK gene which codes for myotonic dystrophy protein kinase on chromosome 19q13.3. Plays an important role in muscle, heart, and brain cells.

107
Q

What are some examples of disease with multifactorial inheritance?

A

Pyloric stenosis, some cancers, type 1 & 2 diabetes, Alzheimer disease, inflammatory bowel disease, schizophrenia, cleft lip/palate, hypertension, rheumatoid arthritis, asthma

108
Q

What is the clinical approach to disorders of sexual differentiation?

A

Obtain FISH studies for sex chromosomes and a karyotype. Order hormone studies. Consider ultrasound study. Surgical consult with urology.

109
Q

If a FISH study determines that a baby is 46, XY and that T & DHT levels are normal or elevated, what could the baby have? (2)

A

Androgen insensitivity syndrome or 5-alpha reductase deficiency

110
Q

If a FISH study determines that a baby is 46, XY and that T & DHT levels are low, what could the baby have? (5)

A

Frasier syndrome, Denys-Drash, SRY mutations/deletions, DHH mutations, RSP01 mutations

111
Q

If a FISH study determines that an ambiguous sex baby is 46, XX, what could the baby have? (6)

A

Congenital adrenal hyperplasia, ectopic SRY, WNT4 mutations, SOX3 duplications, RSP01 mutations, MALDMD1 mutations

112
Q

Androgen insensitivity syndrome, previously called “testicular feminization,” is caused by a mutation in what gene?

A

the X-linked androgen receptor (AR) gene

113
Q

What is 5-alpha reductase deficiency? 46, XY

A

Causes decreased ability of the body to covert testosterone to dihydrotestosterone

114
Q

What is the phenotype of a male with 5-alpha reductase deficiency?

A

Undervirilization until time of puberty

115
Q

What is Denys-Drash and Frasier Syndrome?

A

Sex reversal with 46, XY; due to mutations in the WT1 gene which is a transcription factor for SRY gene

116
Q

What kind of chronic diseases do Denys-Drash and Frasier Syndromes cause?

A

Diffuse mesangial sclerosis, focal segmental glomerulosclerosis

117
Q

Describe the gene that encodes for the alpha subunit of hemoglobin.

A

Two copies of alpha gene on chromosome 16

118
Q

Describe the gene that encodes for the beta subunit of hemoglobin.

A

One copy of beta gene on chromosome 11

119
Q

Describe the levels of globin synthesis throughout fetal life and after birth.

A

Zeta globin converts to alpha globin at about 6 weeks posconceptual age. Alpha globin is made in high amounts throughout life. Epsilon globin converts to gamma globin about 6 weeks posconceptual age; gamma is made in abundance but then switches with beta about 6 months after birth.

120
Q

What is a qualitative hemoglobinopathy versus a quantitative?

A

Qualitative has to do with normal synthesis of globin but altered properties or quality (solubility, stability, oxygen-affinity). Quantitative has to do with amount of synthesis of globin.

121
Q

What is HbS?

A

Sickle cell anemia

122
Q

What is the mutation in HbS?

A

Glutamine -> Valine (GAG->GTG)

123
Q

What does HbC cause?

A

Lysis of RBCs

124
Q

How can HbC, HbS, or HbA be tested?

A

Hemoglobin electrophoresis

125
Q

Is the tense form of hemoglobin oxygenated or deoxygenated? The relaxed?

A

Deoxygenated

Oxygenated

126
Q

What is HbKempsey?

A

High oxygen affinity. Less oxygen to tissues and overproduction of RBCs. Polycythemia.

127
Q

What is HbKansas

A

Low oxygen affinity. Cyanosis.

128
Q

What is alpha-thalassemia?

A

low or zero alpha-globin; both fetal and postnatal defects

129
Q

What is alpha-thalassemia usually caused by?

A

A deletion of the alpha-globin gene(s)

130
Q

What is beta-thalassemia?

A

low or zero beta-globin; postnatal defects only

131
Q

What is beta-thalassemia usually caused by?

A

Point mutations in the beta-globin gene; ocassionally caused by deletions in the LCR or the beta-gene cluster

132
Q

What is the difference betweeen alpha-thalassemia 1 and 2?

A

1 means that one allele has both functioning genes, and the other has none. 2 means that both alleles have only one functioning gene.

133
Q

What is hydrops fetalis?

A

A gamma tetramer -> fetal death

No alpha globin genes expressed whatsoever

134
Q

What population is at higher risk for alpha-thalassemia 1?

A

Southeast Asia

135
Q

What population is at higher risk for alpha-thalassemia 2?

A

Africa, Mediterranean, Asia

136
Q

What is implied by simple thalassemia versus complex?

A

Simple means that only one gene is affected. Complex affects multiple genes in the cluster.

137
Q

What cells makes globin first and where?

A

Megaloblasts make globin in the yolk sac

138
Q

What cells make globin second and where and when?

A

Macrocytes make globin in the liver and spleen before birth

139
Q

What cells make globin after birth and where?

A

Normocytes make globin in the bone marrow after birth and beyond

140
Q

What is another name for Cooley’s anemia?

A

Beta thalassemia major

141
Q

When is Y Thalassemia significant?

A

Only at birth, usually over by 6 months of life

142
Q

When is delta Thalassemia significant?

A

Not significant by itself but can be a problem if beta-deta thalassemia

143
Q

What are some clinical features of Cooley’s anemia?

A

Dense skull, marrow expansion, hepatosplenomegaly, osteopenia, iron overload, growth and endocrine failure.

144
Q

What is the treatment for thalassemias?

A

Red cell transfusions, iron chelators, Vitamin C, splenectomy/cholecystectomy, bone marrow transplant

145
Q

What is hemoglobin Barts?

A

A tetramer of gamma chains

146
Q

What is the disease classification of Hypophosphatemic Rickets?

A

X-linked dominant

147
Q

What is the disease classification of Fragile X Syndrome?

A

X-linked dominant

148
Q

What is the disease classification of Charcot-Marie-Tooth?

A

X-linked dominant

149
Q

What is the disease classification of Rett Syndrome?

A

X-linked dominant

150
Q

What is the disease classification of Focal Dermal Hypoplasia?

A

X-linked dominant

151
Q

What are the clinical manifestations of Hypophosphatemic Rickets?

A

Hypophosphatemia, short stature, bone deformity

152
Q

What is the mutation of Hypophosphatemic Rickets?

A

PHEX which regulates fibroblast growth factor and inhibits the kidney’s ability to reabsorb phosphate into the blood stream.

153
Q

What causes Fragile X Syndrome and what are some of its characteristics?

A

Trinucleotide repeat disorder of CGG. Anticipation & maternal transmission bias.

154
Q

What are the clinical manifestations of Fragile X Syndrome?

A

Intellectual disability, dysmorphic features, autistic behavior, social anxiety, hand flapping/biting, aggression

155
Q

What is the mutation of Fragile X Syndrome? What is the defect?

A

FMR1 & FMRP on chromosome Xq27.3. Protein is essential for normal cognitive development and female reproductive function

156
Q

What is the minimum number of CGG repeats needed for full mutation leading to Fragile X Syndrome?

A

> 200 repeats

157
Q

What is the new mutation rate of Rett Syndrome?

A

95%

158
Q

What are the clinical manifestations of Rett Syndrome?

A

Loss of normal movement and coordination, loss of communication skills, failure to thrive, seizures, abnormal hand movements

159
Q

What is the mutation of Rett Syndrome? What is the defect?

A

Mutation in MECP2 (methyl CpG binding protein). Essential for the normal function of neurons.

160
Q

What is the disease characteristic of Colorblindness?

A

X-linked recessive

161
Q

What is the disease characteristic of Lesch-Nyhan Syndrome?

A

X-linked recessive

162
Q

What is the disease characteristic of Hunter’s Disease?

A

X-linked recessive

163
Q

What is the disease characteristic of Menkes Disease?

A

X-linked recessive

164
Q

What is the disease characteristic of Hemophilia A & B?

A

X-linked recessive

165
Q

What is the disease characteristic of Wiscott Aldrich Syndrome?

A

X-linked recessive

166
Q

What is the disease characteristic of Glucose 6 phosphate dehydrogenase deficiency?

A

X-linked recessive

167
Q

What is the disease characteristic of Dystrophinopathies?

A

X-linked recessive

168
Q

What are the clinical manifestations of Lesch-Nyhan Syndrome?

A

Neurological and behavioral abnormalities, overproduction of uric acid, self injury

169
Q

What is the mutation in Lesch-Nyhan Syndrome? What is the defect?

A

Mutation in HPRT1 (hypoxanthine phosphoribosyltransferase 1) which is responsible for recycling purines

170
Q

What is the mutation in dystrophinopathies?

A

Mutation in DMD dystrophin on chromosome Xp21-21.1

171
Q

What are the clinical manifestations of Duchenne Muscular Dystrophy?

A

Progressive muscular weakness from proximal to distal, calf hypertrophy, dilated cardiomyopathy, CK levels 10x, death in 30s, absence of dystrophin

172
Q

What is the difference between Duchenne and Becker Muscular Dystrophy?

A

Becker Muscular Dystrophy is an abnormal quantity or quality of dystrophin while Duchenne is a complete absence.

173
Q

What percentage of female carriers of Hemophilia A are affected?

A

10%

174
Q

What are the clinical manifestations of Hemophilia A?

A

Spontaneous bleeds into joints, muscles, or intracranial, excessive bruising, prolonged bleeding after injury or incision, delayed wound healing

175
Q

What is the mutation in Hemophilia A and what is the deficiency?

A

Mutation and deficiency in Factor VIII, chromosome Xq28

176
Q

Define mitochondrial disease

A

Group of disorders caused by dysfunction of the respiratory chain; tend to affect tissues that rely heavily on oxidative phosphorylation: brain, retina, skeletal muscle, heart

177
Q

What is the disease classification of Kearns-Sayre?

A

Mitochondrial disease

178
Q

What is the disease classification of MELAS?

A

Mitochondrial disease

179
Q

What is the disease classification of MERRF?

A

Mitochondrial disease

180
Q

What is the disease classification of Leber Hereditary Optic Neuropathy?

A

Mitochondrial disease

181
Q

What are the clinical manifestations of Kearns-Sayre?

A

Eyes affected, cardiac conduction defects, ataxia, deafness, kidney problems

182
Q

What is the mutation in Kearns-Sayre?

A

Single large deletion of mtDNA (most commonly removes 12 genes)

183
Q

What are the clinical manifestations of MELAS?

A

Muscle weakness, seizures, repetitive stroke-like episodes, elevated lactic acidosis

184
Q

What are the clinical manifestations of MERRF?

A

Muscle symptoms, seizures, ataxia, dementia, ragged-red fibers

185
Q

What is the mutation in MELAS?

A

Mitochondrial genes (lots of them)

186
Q

What is the mutation in MERRF?

A

Mitochondrial genes MT-TK

187
Q

What are the clinical manifestations of Leber Hereditary Optic Neuropathy?

A

Vision loss

188
Q

What is the mutation in Leber Hereditary Optic Neuropathy

A

Mitochondrial genes (lots of them)

189
Q

Describe Fabry Disease

A

X-linked disorder, deficiency of alpha-galactosidase A activity

190
Q

What are the symptoms of Fabry Disease?

A

Microvascular Disease, neuropathy, nephropathy, cardiomyopathy

191
Q

What is the treatment for Fabry Disease?

A

Protein replacement: Recombinant alpha-galactose

192
Q

What is the protein replacement treatment for alpha-1 antitrypsin deficiency?

A

Recombinant AT1 therapy

M2M Unit II (2 decks)

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