Unit 2 Flashcards
(302 cards)
1
Q
Congenital Defect
A
a defect present at birth
2
Q
Hereditary Defect
A
A defect that has a genetic basis and transmitted thru the germ line
3
Q
Genetic Disease Etiology
A
Arise from a mutation, or permanent change in DNA
4
Q
Classification of Genetic Disorders
A
Single Gene
Chromosomal Disorders
Complex Multigenic
5
Q
Single Gene Disorder Penetrance
A
High
6
Q
Chromosomal Disorders
A
alterations in autosomes or sex chromosomes
7
Q
Point Mutation
A
Single base substituted with a different base
8
Q
Frameshift mutation
A
Addition or deletion of a nucleotide
9
Q
Trinucleotide Repeat
A
Amplification of a set of three bases
10
Q
Classic Example of Point Mutation
A
Sickle cell disease
11
Q
Trinucleotide Repeat Threshold
A
The number of repeats at a locus that yields a pathology, and below which does not cause symptoms
12
Q
Single Gene Disorder Transmission Patterns
A
Autosomal Dominant
Autosomal Recessive
X Linked
Mitochondrial?
13
Q
Autosomal Dominant Disorder Specific Example
A
Marfan Syndrome
14
Q
Marfan Syndrome Molecular Pathology
A
Defect in fibrillin of elastic fibers
15
Q
Autosomal Recessive Disorder Categorical Example
A
Almost all inborn errors of metabolism
16
Q
Autosomal Recessive Disorder Etiology
A
Both alleles must be mutated
17
Q
Autosomal Recessive Disorder Specific Example
A
Cystic Fibrosis
18
Q
Cystic Fibrosis Molecular Pathology
A
Defect in CTFR protein
19
Q
X Linked Disorders Dominant or Recessive?
A
Recessive
20
Q
X Linked Disorder Specific Example
A
Fragile x syndrome
21
Q
Mitochondrial Disorder Inheritance Pattern
A
Completetly maternal
22
Q
Structural Chromosome Abnormalities
A
Isochromosome
Deletion
Translocation
23
Q
Karyotype Advantage
A
Global strategy
24
Q
Karyotype Disadvantage
A
Requires fresh frozen tissue
25
Pediatric patients are more susceptible to which broad category of disease?
Infection
26
Major Differences in Pediatric Physiology
Smaller airways and blood vessels
Less efficient immune system
Fewer antibodies
27
Embryonic Period
0 to 9 weeks
28
Fetal Period
Greater than 9 weeks
29
Major Event in Embryonic Period
Formation and differentiation of structures
30
Congenital Malformation
Abnormality of morphogenesis due to an intrinsic problem within the developing structure
31
Congenital Deformation
Abnormality of morphogenesis due to extrinsic forces on a normally developing structure
32
Congenital Malformation Example
Cleft Palate
33
Congenital Deformation Example
Clubfoot
34
Congenital Disruption Definition
Destructive force acting upon an otherwise normal developing structure
35
Congenital Disruption Example
Amniotic banding
36
How many births with some kind of malformation, disruption, or deformation
About 3%
37
Percentage of malformations due to teratogenic exposure
About 1%
38
Two Mechanisms of Perinatal Infection
Ascending
Transplacental
39
Ascending or Transcervical Infection Etiology
From vaginal flora through cervix
Usually a problem at or near delivery
Usually bacterial
40
Transplacental Infection Etiology
Spread from maternal blood to fetus
41
Common Transplacental Infections
Toxoplasmosis
Rubella
CMV
Herpes, Hep B, HIV
Syphilis
42
Normal Birth Weight
More than 2500g or 5.5lbs
43
Low Birth Weight
Less than 2500g or 5.5lbs
44
Very Low Birth Weight
Under 1500g or 3.3lbs
45
Prematurity
Birth before 37 weeks
46
Small for Gestational Age
Less than 10th percentile for gestational age in the absence of pathology
47
Intrauterine Growth Restriction
In utero size less than 10th percentile for gestational age
48
Fetal growth restriction often leads to what?
Cerebral disfunction, learning disabilities, sensory disabilities
49
Percentage of Newborns Born with IRDS
60% at under 28 wks
15% to 20% at between 32 to 36 wks
Less than 5% at greater than 37 wks
50
Two Main Complications of Oxygen Toxicity in Treating IRDS
Retinopathy of prematurity
Bronchopulmonary Dysplasia
51
SIDS Ages Range
Between 2 to 4 months of age
52
Fetal Hydrops Etiology
Fetal anemia leads to increase in maternal fluids to supply more oxygen witch leads to fetal edema
53
Fetal Hydrops Categories
Immune
Non immune
54
Immune Fetal Hydrops
Antibody induced hemolytic disease of newborn
55
Immune Fetal Hydrops Etiology
Maternal anti D IgG in response to D+ fetal blood between Rh- mom and Rh+ baby in the second pregnancy
56
Nonimmune Fetal Hydrops Cause
Cardiovascular defects
57
Nonimmune Nonstructural Causes of Fetal Anemia
Homozygous alpha thalassemia
Parvovirus B19 infection
58
Childhood tumors are often associated with what?
Genetic syndromes
59
Tumor like Lesion
An abnormal collection of tissue with limited growth potential
60
Hamartoma
Focal and benign overgrowth of cells that are native to the organ site
61
Heterotopia
Growth of cells that are NOT native to the organ site
62
Most Common Benign Childhood Tumors
Hemangioma
Lymphangioma
Sacrococcygeal Teratoma
63
Hemangioma
Benign tumor of the capillaries, often congenital and on the skin and that regresses with age
64
Lymphangioma
Benign tumor of lymphatics, most commonly found in the neck and axilla and associated with turner syndrome
65
Sacrococcygeal Teratoma
Tumor of primitive cells, usually with different histological types reflecting all three germ layers
66
General Fact About Malignant Tumors of Childhood
Derived from the tissues or cells that are actively growing like bone marrow, soft tissue, and brain
67
Most Common Pediatric Malignant Neoplasm
Leukemia
68
Neuroblastoma
Malignant tumor of the cells of the sympathetic nervous system, often presents in the adrenal gland
69
Second Most Common Pediatric Malignant Neoplasm
Neuroblastoma
70
Neuroblastoma Prognosis Age
Best under 12 months
71
Neurblastoma General Prognosis
Tendency to spread widely, but patients tend to do well
72
Retinoblastoma Clinical Presentation
Poor vision, strabismus, leukocoria, pain, and tenderness
73
Retinoblastoma Median Age of Presentation
2 years old
74
Retinoblastoma increases the risk of what other cancer?
Osteosarcoma
75
Most Common Primary Kidney Tumor of Childhood
Wilms Tumor
76
Wilms Tumor Clinical Presentation
Flank pain, pelvic pain, hematuria, palpable abdominal mass
77
WAGR Syndrome
Wilms Tumor
Aniridia
Genitourinary Anomalies
mental Retardation
78
Denys Drash Syndrome
Wilms Tumor
Gonadal Dysgenesis
Renal Abnormalities
79
Beckwith Wiedemann Syndrome
Organomegaly
Gigantism
Risk for a bunch of tumors
80
Neoplasia
Overgrowth of tissue that is autonomous and clonal, or arising from a single cell
81
Two Major Types of Neoplasms
Benign
Malignant
82
Benign Neoplasm
Clinically innocuous tumors
83
Malignant Neoplasm
Demonstrates invasion or metastasis or both, and a wide range of clinical severity
84
Benign Neoplasm Suffix
oma
85
Choristoma
Proliferation of one or more tissue types not usually seen in site of origin
86
Neoplastic Differentiation
Extent to which tumor microscopically resembles the tissue of origin
87
Anaplasia
Extreme degree of undifferentiation and looks NOTHING LIKE the tissue of origin
88
Carcinoma
Malignant neoplasm arising from epithelial tissue
89
Sarcoma
Malignant neoplasm arising from mesenchymal, or connective, tissue
90
Carcinosarcoma
Malignant neoplasm with both epithelial and mesenchymal elements
91
Biological Hallmark of Malignant Tumors
Invasion of adjacent tissue
92
Metastasis
Spread of tumor to physically discontinuous site
93
Lymphatic Metastasis
Spread of neoplasm to regional lymph nodes, preferred by carcinomas
94
Hematogenuous Metastasis
Spread of neoplasm via blood vessels usually to distant sites, preferred by sarcomas
95
Most Common Site of Hematogenous Metastasis
Liver
96
Body Cavity Metastasis
Spread of neoplasm throughout a body cavity
97
In Situ Tumors
Tumors composed of malignant cells but have not shown invasive behavior
98
What is the Second Leading Cause of Death in the United States
Cancer
99
How many deaths of cancer per year
600,000
100
How many new cases of cancer per year
1.8 million
101
Most Common Cancer that Causes Death
Lung
102
Four Most Common Types of Cancer in Children
Leukemia
Brain
Bone and Soft Tissue
Lymphoma
103
All carcinogens cause cancer through this general mechanism.
Interaction with the nuclear DNA of the cell
104
Geographic Variation Prevalence of These Cancers
Gastric Carcinoma
Hepatocellular Carcinoma
Insular Thyroid Carcinoma
105
Common Occupational Carcinogens
Asbestos
Radon
Benzene
Arsenic
Formaldehyde
106
Common Infectious Carcinogens
HPV
EBV
107
Common Cancers Driven by Hormonal Manipulation
Endometrial
Breast
Prostate
Thyroid
108
Common Noninfectious Medical Carcinogens
Liver Cirrhosis
Atrophic Gastritis
Pagets Disease of Bone
Familiar Adenomatous Polyposis
Ulcerative Colitis
Barrett Esophagus
109
Common Cancer Genes
BRCA --> Breast and Ovarian
MEN --> Multiple Endocrine Neoplasia
RB --> Retinoblastoma
110
Oncogenes
Genes that promote cell growth
111
Proto oncogenes
Normal gene from which oncogenes arise
112
Tumor Suppressor Genes
Slow or prevent tumor growth and mutation decreases activity
113
Driver Genes
Directly affect function of a gene
114
Passenger Mutations
Do not directly contribute to carcinogenesis but are more numerous than driver genes, present in specific patterns that identifies a carcinogen, and may impact response to therapy
115
Chromosomal Translocations
Where a piece of one chromosome switches places with a piece of another chromosome
116
Chromosomal Deletion
Loss of a part of a chromosome
117
Aneuploidy
Alteration in the number of chromosomes in a cell
118
Growth Self Sufficiency
Cancer cells make their own growth factors, regulate their own growth factor receptors like EGFR and HER2, and regulate their own transcription factors
119
Insensitivity to Growth Inhibiting Factors
Loss of cell cycle control and mutation of TP53 gene that inhibits tumor growth
120
Altered Cell Metabolism of Tumor Cells
Tumor cells produce ATP thru aerobic glycolysis, which generates ATP and metabolic growth intermediates
121
Evasion of Apoptosis
Inhibition of intrinsic, mitochondrial apoptosis mechanism
122
Evasion of Apoptosis Molecular Biology
Loss of P53
Increase in MDM2
Decreased mitochondrial release of cytochrome C
Decreased caspase activity
123
Unlimited Replication Potential
Cancer cells can replicate indefinitely and are insensitive to aging factors
124
Sustained Angiogenesis
Malignant tumors generate their own blood supply
125
Tissue Invasion Mechanisms
Loosening connections between cells
Degradation of basement membrane
Locomotion
126
Evasion of Immune System
Tumor cells can escape cytotoxic T lymphocytes
127
Mechanisms of Immune Evasion
Alteration of antigenic expression, like high expressions of proteins that inactivate cytotoxic T lymphocytes like PD L1
128
Cachexia
Loss of body fat and body mass in cancer patients and NOT related to the calorie demands of the tumor
129
Paraneoplastic Syndrome
Clinical sign or symptom associated with malignancy but not directly associated with the tumor
130
Most Common Paraneoplastic Syndrome
Cancer Hypercalcemia
Ectopic Hormone Secretion by Tumor
Hypercoagulability
131
Most Common Ectopic Hormone Secretion in Cancer
ACTH secretion by small cell lung carcinoma
132
Cancer Grading
Microscopic assessment of the degree of differentiation of a cancer
133
Staging Cancer
Clinical, gross, and microscopic assessment of the extent of invasion and metastasis of cancer
134
High Grade Neoplasm
Poorly differentiated, looks NOTHING like the tissue of origin
135
Low Grade Tumor
Highly differentiated, looks VERY MUCH like the tissue of origin
136
Defined Grading Criteria
Gleason for Prostate
FIGO System for Endometrium
Nottingham System for Breast
Fuhrman System for Kidney
137
TNM Staging System
T tumor invasion
N lymph node metastasis
M extent of distant metastasis
138
T Stages
T1, T2, T3, or T4
139
N Stages
NX, N0, N1, N2, or N3
140
M Stages
M0 or M1
141
NX Meaning
No information on lymph node metastasis
142
Diagnostic Serum Markers for Cancer
CEA for Colon
PSA for Prostate
CA125 for Ovary
HCG and AFP for Germ Cells
143
Gold Standard of Cancer Diagnosis
Biopsy and pathologic diagnosis
144
Biopsy Cytology Techniques
Fine needle aspiration
Scrapes
145
Tissue Biopsy Techniques
Core needle
Endoscopic
Incisional
Excisional
146
FISH Testing
Fluorescent in situ hybridization
147
Primary Malnutrition
one or all dietary components missing
148
Secondary Malnutrition
Adequate dietary intake but impaired absorption or increased use due to disease
149
Which vitamins are stored in the body?
Fat soluble vitamins A, D, E, and K
150
Which vitamins are eliminated in the urine?
Water soluble vitamins
151
Causes of Dietary Insufficiency
Poor diet
Poverty
Chronic alcoholism
Illness
Self imposed diet restriction
152
Severe Acute Malnutrition Criteria
Weight to hight ratio less than 35
Mid upper arm circumference less than 115 mm
Edema of both feet
153
Where is protein lost in severe acute malnutrition
Somatic
Skeletal muscle
154
Marasmus
Severe calorie depletion
155
Kwashiorkor
Protein deprivation in a normal calorie range, characterized by loss of serum protein
156
Causes of Secondary Malnutrition
Chronic Illness
Cachexia
Infections Like HIV Lipodystrophy
157
Vitamin C Deficiency Symptoms
Wounds won't heal
Lethargy
Bleeding Gums
158
Thiamin Vitamin B1 Deficiency
Wet beriberi and dry beriberi
159
Wet Beriberi
Associated with the heart and vascular system and leads to dilated cardiomyopathy
160
Dry Beriberi
Associated with the nervous system, think about Wernicke Korsakoff Syndrome and chronic alcohol misuse
161
Vitamin C Functions
Collagen Synthesis
Antioxidant Properties
Iron Uptake
162
B12 Deficiency
Associated with pernicious anemia, an inherited lack of intrinsic factor
163
Niacin Deficiency Symptoms
Dermatitis
Diarrhea
Dementia
Death
164
Vitamin A Names
Retinol, retinal, retinoic acid
165
Vitamin A Function
Vision
Differentiation of mucus cells
Lipid Metabolism
166
Vitamin A Deficiency
Night Blindness
Dry Eye
Cornea Changes
Infection
Squamous Metaplasia
167
Vitamin A Toxicity
Headache
Blurred Vision
Mental Status Changes
Chronic Weight Loss
168
Vitamin D Names
Cholecalciferol
169
Vitamin D Functions
Calcium and phosphorus metabolism
170
Pediatric Vitamin D Deficiency
Rickets, or excess unmineralized bone
171
Normal BMI
18.5 to 25
172
Overweight BMI
25 to 30
173
Obese BMI
Over 30
174
Adipocyte Hormones
Leptin decreases appetite
Adiponectin alters fatty acid metabolism
175
Ghrelin Function
Stimulates appetite through hypothalamus
176
Peptide YY Function
Decrease appetite and promotes satiety by stimulating the hypothalamus
177
Are most toxins lipophilic or hydrophilic
Lipophilic
178
Phase 1 Drug Metabolism
Action of cytochrome P450 converts drugs to water soluble forms and makes them useable or unusable
179
Phase 2 Drug Metabolism
Additional modifications like through the kidneys
180
Common Air Pollutants
Ozone
Sulfur Dioxide
Acid Aerosols
Particulates
181
Common Indoor Air Pollutants
Asbestos
Radon
182
Pathophysiology of Air Pollutant Damage
Free radical damage and inflammation
183
EPA Monitors These Chemicals
Sulfur Dioxide
CO2
Ozone
Nitrogen Dioxide
Lead
Particulates
184
Sulfur Dioxide is produced from where?
Coal Plants
185
Particulate Matter Length Measurement
Under 10 microns
186
Heavy Metal Toxins
Lead
Arsenic
Lead
Mercury
Thallium
187
Common place to find arsenic
Rat poison
188
Thallium Toxicity Big Clue
Sudden hair loss and neurological disfunction
189
Lead Poisoning Pathophysiology
Bind to sulfhydryl groups of proteins and impacts calcium metabolism
190
Diagnostic Lab Tests for Lead
Elevated blood lead levels
Elevated RBC free protoporphyrin
Elevated zinc protoporphyrin
191
When can heavy metals cause the most damage in utero
3 to 8 weeks
192
Industrial and Agricultural Toxins
Organic Solvents
Polycyclic Hydrocarbons
Organochlorines
Vinyl Chloride
Formaldehyde
193
How many deaths per year caused by tobacco?
400k in the united states
Between 4 and 8 million worldwide
194
Common cancers related to tobacco use
Lung, head and neck, pancreas, bladder, esophagus
195
Blood Marker of Tobacco Use
Cotinine
196
Common drugs that interfere with other drugs
Chemotherapies
Tetracyclines
Female Hormone Therapy
NSAIDS
197
Major risks for NSAID usage
Liver damage
198
Aspirin Use Risks
Metabolic Acidosis
Bleeding
Gastric Ulcers
199
Key Number for Burn Fatality
More than 50% of the body
200
Rule for tissues most susceptible to radiation injury
Tissue that divides the most
201
Infectious Disease Global Impact
Less common in the United States but more common in developing nations
202
Opportunistic Infection Definition
Infections most common in immunocompromised people
203
Categories of Infectious Agents
Prion
Virus
Bacteria
Parasite
Fungi
Protozoa
Ectoparasites
204
Gram Positive Bacteria
Thick cell wall that retains crystal violet stain
205
Gram Negative Bacteria
Thin cell wall that does not retain crystal violet stain
206
Mycoplasma Bacteria
No cell wall
207
Skin Conditions that Predispose to Infection
Wet skin
Disrupted Skin
Damaged Skin
208
Which bacteria inhibit phagocytosis by lung macrophage?
Mycobacteria
209
Immunoglobulin Secreted by Intestinal Mucosa
IgA
210
Spread of Infectious Organisms Within the Body
Local
Lymphatic
Hematogenous
Neural
211
Viruses that spread neurally
Rabies
Varicella zoster
herpes
212
Categories of Hematogenous Spread
Through the blood
Through the peritoneum
213
Transmission of Infectious Agents
Fecal oral
Respiratory
Bloodborne
Sexual
Vector Transmission
Zoonitic
214
Virus Size
20 to 30 nm
215
HPV Subtypes that Cause Cancer
HPV 16 and 18
216
Mycoplasma Bacteria Examples
Chlamydiae
Rickettsiae
Mycoplasma
217
Mycoplasma Distinction
No cell wall
218
Pyogenic Cocci
Staph
Strep
Pneumococcus
Neiserria menigitidis
Gonorrhea
219
Gram Negative Bacteria Examples
E coli
Klebselia
220
Pediatric Bacterial Infections
Hemophilus influenzae
221
Enteric Bacterial Infections
Salmonella
E coli
Helicobacter pilori
Vibrio cholerae
222
Treatment for Helicobacter
Macrolides
223
Clostridial Bacteria Infections
Tetanus
Botulism
Gas gangrene
C diff diarrhea
224
Mycobacteria Infections
TB
Leprosy
225
TB Treatment
Isoniazid Rifampin Pyrazinamide
226
Leprosy Treatment
Dapsone and Rifampin
227
Two Forms of Fungi
Yeasts
Hyphae
228
Antifungal Agents
Imidazoles and Triazoles
Nystatin
Amphotericin B
229
Protozoa
Single celled, motile parasites that cause skin, lymph, and blood infections
230
Helminths
Roundworms
Tapeworms
Flatworms
Flukes
231
Pinworm
Intestinal or anal parasite
232
Strongyloides
Large intestinal roundworm
233
Tapeworm
Intestinal parasites
234
Schistosomes
Blood flukes, ova seen in intestine or urinary bladder
235
Ectoparasites
Arthropod parasites that attach to skin
236
Mechanisms of Infectious Disease Causation
Direct invasion and injury to cells
Release of toxins
Induction of injurious immune response
Suppression of immune response
237
Viral Tropism
Specific viruses seek out specific cells and tissues
238
Bacteria usually impact what type of tissue?
Wet tissue
239
Bacterial Cell Injury
Direct invasion or injury of cells
Toxin Production
Host Response
240
Bacterial Endotoxin Molecule
Heat stable lipopolysaccharides
241
Bacterial Endotoxin Location
Bacterial cell wall
242
Bacterial Exotoxin Molecule
Heat labile proteins
243
Classic Exotoxin Examples
Tetanus
Botulism
Cholera toxin
244
Bacterial Exotoxin Location
Secreted by the bacteria
245
Bacterial Enzyme Location
Secreted by the bacteria
246
Bacterial Enzyme Function
Aides in local spread of bacteria by breaking down connective tissue and inhibiting clot
247
Microbial Immune Defense
Cleaves antibodies with enzymes
Resist complement lysis
Resisting phagocytosis
Rapidly changing antigenic makeup
Direct damage to immune cells
248
Bacteria that hide antigens
E coli
Klebsiella
249
Bacteria that resist phagocytosis
Mycobacteria
250
Mechanisms of Infection Diagnosis
Direct microscopy
Culture
PCR and other genetic testing
251
Methods of Bacterial Identification
Gram Stain
Hemolysis pattern
Biochemical Tests
Serotype Antigen Identification
252
Special Considerations for Mycobacteria Testing
Acid Fast or Fluorescent stains
Special Cultures that take a long time
PCR
253
Fungus Identification Techniques
In tissue or cytology specimens
Culture
Histology and staining
254
Fungal Stains
H&E
Silver
PAS Stain
Mucin stain
KOH Prep
255
Viral Identification Techniques
PCR
Serology
Special culture
Microscopy of viral cytological impact
256
Parasite Identification Techniques
Direct Identification
NO CULTURE
257
Parasite Stains
Iodine Stool Stain
Trichrome Stool Stain
Wright Blood Stain
H&E, Giemsa, or Silver Tissue Stain
258
Genetic Heterogeneity
Mutations at different loci can lead to the same clinical presentation
259
Anticipation
Symptoms get worse or present earlier in each subsequent generation
260
Nonsense Mutation
Premature stop codon
261
Metabolic diseases usually present in this population.
Pediatric
262
Autosomal dominant disorders disrupt what sort of protein?
Structural proteins
263
Type of genetic disorder that can present with new onset
Autosomal dominant
264
EDS Inheritance Pattern
Dominant OR Recessive
265
Autosomal recessive disorders disrupt what sort of protein?
Enzymes
266
PKU Mnemonic
1/3 can't walk 2/3 can't talk
267
PKU Molecular Biology
Inability to metabolize phenylalanine into tyrosine
268
PKU Treatment
Phenylalanine free diet
269
Three Major Features of AKU
Dark Urine
Dark cartilage
Tendon Rupture
Arthritis
270
AKU Molecular Biology
Deficiency in homogentisic dioxygenase, where homogentisic acid degenerates into a black pigment called alkaptan
271
Tyrosinemia Molecular Biology
Deficiency in funarylacetoacetate hydrolase so cannot metabolize tyrosine
272
Tyrosenemia Treatment
Dietary restriction
nitisinone
273
Galactosemia Molecular Biology
Enzyme deficiency leads to buildup of galactose in the eyes and liver
274
Galactosemia Treatment
Remove galactose from the diet in the first two years of life
275
Common features of lysosomal storage diseases
Hepatosplenomegaly
CNS Involvement
276
Tay Sachs Disease Enzyme Deficiency
Hexosaminidase A
277
Tay Sachs Molecular Biology
Ganglioside accumulation in CNS and peripheral ganglia
278
Tay Sachs Classic Signs
Cherry red spot on retina
NO Hepatosplenomegaly
279
Niemann Pick Disease Classic Sign
Massive visceromegaly
280
Niemann Pick Disease Classic Electron Microscopy Sign
Zebra Body
281
Gaucher Disease Molecular Biology
Glucocerebrosidase deficiency
282
Gaucher Disease Light Microscopy Sign
Wrinkled tissue paper cells
283
Gaucher Disease Classic Sign
20 fold higher risk of Parkinson's disease
284
Niemann Pick Light Microscopy Sign
Foamy cells
285
Mucopolysaccharidoses Molecular Biology
Deficiency in hydrolase enzymes which catabolize mucopolysaccharides
286
Mucopolysaccharidoses Examples
Hunter Syndrome
Hurler Syndrome
287
Hunter Syndrome Signs and Symptoms
Course face
Mild boney abnormalities
NO corneal clouding
288
Hurler Syndrome Signs and Symptoms
Cardiac Issues
Course face
Corneal clouding
Dwarfism
289
Glycogen Storage Disease Examples
Von Gierke
McArdle
Pompe
Brancher Glycogenosis
290
Von Gierke Organ Impact
Liver
291
McArdle Organ Impact
Skeletal muscle
292
Pompe Organ Impact
Heart and liver
293
Brancher Glycogenosis Organ Impact
Heart, liver, muscles
294
Triple Repeat Disorders
Huntingtons
Fragile X
Myotonic Dystrophy
295
Fragile X Syndrome Symptoms
Mental retardation
Large Testis
Neurodegenerative Disorders
296
Niemann Pick Molecular Biology
Sphingomyelinase Deficiency
297
Tyrosinemia Inheritance Pattern
Autosomal recessive
298
Tyrosinemia Occurence
1 in 100,000
299
Von Gierke Enzyme Deficiency
G6P
300
McArdle Disease Enzyme Deficiency
Muscle Phosphorylase
301
Pompe Disease Enzyme Deficiency
Lysosomal Maltase
302
Brancher Glycogenosis Enzyme Deficiency
Glycogen Branching Enzyme
