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174 Cards in this Set
- Front
- Back
Disease, Gene, Mutation:
Increased Bacterial Infections after 6 months ↓ B-Cells Low Levels of Immunoglobulins |
Bruton's Agammaglobulinemia
X-Linked Recessive Decreased Production of B-cells |
|
Disease, Mutation, Gene:
Tetany Recurrent Viral and Fungal Infections |
DiGeorge Syndrome
22.11q deletion syndrome Thymus and Parathyroids fail to develop. Failure of Pharyngeal Pouch 3 Ass'd with Truncus arteriosus and Tetralogy of Fallot |
|
Disease, Mutation, Gene:
↓ B and T-cells Recurrent Infections of all types |
Multiple causes:
Adenosine Deaminase Deficiency ↓ Synthesis of MHC Class II Defective IL-2 receptors (most common, X-Linked) Ass'd with no rejection of Allografts |
|
Disease, Gene, Mutation:
Disseminated Mycobacterial Infections (Th1 response ↓) |
IL-12 Deficiency
Decreased Activation of Th1 cells |
|
Disease, Gene, Mutation:
Recurrent Severe Pyogenic Infections ↑ IgM ↓ IgG, IgA and IgE |
Hyper IgM Syndrome
Defect in CD40L of T-cell leading to inability to class switch. |
|
Disease, Gene, Mutation:
Recurrent Pyogenic Infections Thrombocytopenic Purpura Eczema |
Wiskott-Aldrich
X-Linked Recessive Defect Defect in ability to mount an IgM response to capsular polysaccharides W = Wiskott-Aldrich I = Infections (pyogenic) P = Purpura E = Eczema |
|
Disease, Mutation, Gene:
Coarse Facies Abscesses Retention of Primary Teeth ↑ IgE Eczema |
Job's Syndrome
Failure to produce IFN-γ Neutrophils fail to respond to stimuli Decreased Neutrophils |
|
Disease, Mutation, Gene:
Early bacterial infections Abscesses with no pus High Neutrophils Delayed Separation of Umbilical Cord |
Leukocyte Adhesion Deficiency Type 1
Defect in LFA-1 INTEGRIN |
|
Disease, Mutation, Gene:
Recurrent Pyogenic Infection Partial Albinism Peripheral Neuropathy |
Chediak-Higashi
Autosomal Recessive Defect in MICROTUBULAR function |
|
Disease, Mutation, Gene:
Recurrent severe S. Aureus, E. coli, and Aspergillus infections Negative Nitroblue Tetrazolium Test |
Chronic Granulomatous Disease
X-Linked Disorder(?) Failure to Produce NADPH Oxidase |
|
Disease, Gene, Mutation:
Recurrent Superficial Candidal Infections |
Chronic Mucocutaneous Candidiasis
T-cell defect in ability to kill Candida specifically |
|
Disease, Gene, Mutation:
Sinus and Lung Infections Anaphylaxis with IgA containing blood products |
Selective IgA Deficiency
|
|
Disease, Mutation, Gene:
Cerebellar Dysfunction Spider Angiomas |
Ataxia-Telangectasia
Autosomal Recessive Disorder Defect in DNA repair enzymes. IgA Deficiency |
|
CVID
|
Normal numbers of B-cells.
↓ Immunoglobulins |
|
Antidote for Acetominophen
|
N-Acetylcysteine. Regenerates Glutathione
|
|
Antidote for Salicylates
|
NaHCO3 (alkalinize urine)
|
|
Antidote for Amphetamines (Basic)
|
NH4Cl (acidifies Urine)
|
|
Antidote for Anticholinesterases / Organophosphates
|
Atropine
Pralidoxime |
|
Antidote for Atropine OD
|
Physostigmine (AChE)
|
|
Antidote for Beta Blockers
|
Glucagon (Beta Blockers block B2 which causes glucagon release)
|
|
Antidote for Digitalis
|
Normalize K+, Lidocaine, Anti-Dig Ab, Mg2+
|
|
Antidote for Iron OD
|
Deferoxime
|
|
Antidote for Lead
|
CaEDTA, penicillamine, Dimercaprol, succimer
|
|
Antidote for Mercury, Arsenic, Gold
|
Dimercaprol, succimer
|
|
Antidote for Copper, Arsenic, Gold
|
Penicillamine
|
|
Antidote for Cyanide
|
Nitrites (inc. Methemoglobin)
|
|
Antidote for Methemoglobin
|
Methylene Blue, Vitamin C
|
|
Antidote for Carbon Monoxide
|
Hyperbaric O2
|
|
Antidote for Methanol, Ethylene Glycol
|
Fomepizole or Ethanol
Fomepizole block Alcohol Dehydrogenase Ethanol competes for EtOH Deyhydrogenase |
|
Antidote for Opiods
|
Naltrexone or Naloxone
|
|
Antidote for Benzodiazepines
|
Flumazenil
|
|
Antidote for TCA OD
|
NaHCO3 (alkalinize urine)
|
|
Antidote for Heparin
|
Protamine Sulfate
|
|
Antidote for Warfarin
|
Acute - Fresh Frozen Plasma
Subacute - Vitamin K |
|
Antidote for tPA, Streptokinase
|
Aminocaproic Acid
|
|
Antidote for Theophylline
|
Beta Blocker
|
|
Signs of Lead Poisoning
|
Lead Lines on Gingiva and Epiphyses of Long Bones
Sideroblastic Anemia Wrist/Foot Drop. Tx: CaEDTA, Dimercaprol |
|
Mech of Iron Poisoning
|
Peroxidation of Membrane Lipids
|
|
Drug Reaction:
Atropine-Like Symptoms (1) Hot as a Hare Dry as a Bone Red as a Beet Blind as a Bat Mad as a Hatter |
Tricyclic Antidepressants
Amitryptiline. Nortryptiline is LESS LIKELY to cause these Sx. |
|
Drug Reaction:
Coronary Vasospasm (2) |
Cocaine
Sumatriptan |
|
Drug Reaction:
Cutaneous Flushing (4) |
Niacin
Ca Channel Blockers Adenosine (ablation of nerves in cards arryhtmias) Vancomycin (Red Man Syndrome) |
|
Drug Reaction:
Dilated Cardiomyopathy (1) |
Doxorubicin (Adriamycin)
|
|
Drug Reaction:
Torsades Des Pointes (3) |
Type IA Antiarryhthmics
Procainamide, Quinidine Type III Antiarrhythmics Sotalol (NOT AMIODARONE) |
|
Drug Reaction:
Agranulocytosis (4) |
Clozapine
Carbamazapine Colchicine Propylthiouracil/Methimazole |
|
Drug Reaction:
Aplastic Anemia (5) |
Propylthiouracil/Methimazole
Chloramphenicol Benzene NSAIDs |
|
Drug Reaction:
Autoimmune Hemolytic Anemia (Coombs Positive) (1) |
Methyldopa
|
|
Drug Reaction:
Gray Baby Syndrome (1) |
Chloramphenicol
|
|
Drug Reaction:
Hemolysis in G6PD (6) |
INH
Sulfonamides Primaquine Aspirin Ibuprofen Nitrofurantoin Hemolysis IS PAIN |
|
Drug Reaction:
Cough (1) |
ACE-I
Change to ARBs (Losartan) |
|
Drug Reaction:
Pulmonary Fibrosis (3) |
Bleomycin
Busulfan Amiodarone |
|
Drug Reaction:
Acute Cholestatic Hepatitis (1) |
Macrolides (Erythromycin, Azithromycin)
|
|
Drug Reaction:
Massive Hepatic Necrosis (4) |
Halothane
Valproic Acid Acetaminophen Amanita mushroooms |
|
Drug Reaction:
Hepatitis (1) |
INH
|
|
Drug Reaction:
Pseudomembranous Colitis (2) |
Ampicillin
Clindamycin |
|
Drug Reaction:
Adrenocortical Insufficiency (1) |
Corticosteroid W/D
|
|
Drug Reaction:
Gynecomastia (5) |
Spironolactone
Digitalis Cimetidine Alcohol Ketoconazole Some Drugs Create Awesome Knockers |
|
Drug Reaction:
Hot Flashes (2) |
Tamoxifen (SERM)
Clomiphene (SERM) |
|
Drug Reaction:
Gingival Hyperplasia (1) |
Phenytoin
|
|
Drug Reaction:
Gout (2) |
Furosemide
Thiazides |
|
Drug Reaction:
Osteoporosis (2) |
Corticosteroids
Heparin |
|
Drug Reaction:
Photosensitivity (3) |
Sulfonamides
Amiodarone Tetracyclines SAT for a PHOTO |
|
Drug Reaction:
Rash (Stevens-Johnson) Syndrome (8) |
Ethosuximide
Lamotrigine Carbamazepine Phenytoin Phenobarbital Sulfa Drugs Penicillin Allopurinol |
|
Drug Reaction:
SLE-like Syndrome (4) |
Hydralazine
INH Procainamide Phenytoinn It's not HIPP to have LUPUS |
|
Drug Reaction:
Tendonitis (1) |
Fluroquinolones (-floxacins)
|
|
Drug Reaction:
Fanconi's Syndrome (2) Decreased PCT transport of AA, Glucose, PO4, Uric Acid, Protein, and electrolytes |
Expired Tetracycline
Cisplatin |
|
Drug Reaction:
Interstitial Nephritis (3) |
NSAIDs
Methicillin Furosemide |
|
Drug Reaction:
Hemorrhagic Cystitis (1) |
Cyclophosphamide / Ifofosfamide
Administer with MESNA to decrease |
|
Drug Reaction:
Cinchonism (Headache, Tinnitus, Thrombocytopenia) (1) |
Quinidine
|
|
Drug Reaction:
Diabetes Insipidus (2) |
Lithium
Demeclocycline |
|
Drug Reaction:
Parkinson-like syndrome (4) |
Haloperidol
Chlorpromazine Reserpine Metoclopramide |
|
Drug Reaction:
Seizures (3) |
Buproprion
Imipenem/Cilastatin Isoniazid |
|
Drug Reaction:
Tardive Dyskinesia (1) |
Antipsychotics
|
|
Drug Reaction:
Disulfiram-Like Reaction |
Metronidazole
Cephalosporins Procarbazine 1st Generation Sulfonylureas (Tolbutamide, Chlorpropramide) |
|
Drug Reaction:
Nephrotoxicity/Neurotoxicity (1) |
Polymixin
|
|
Drug Reaction:
Nephrotoxicity/Ototoxicity (4) |
Aminoglycosides
Vancomycin Loop Diuretics Cisplatin |
|
P-450 Inducers
|
Quinidine
Barbiturates St. John's Wort Phenytoin Rifampin Griseofulvin Carbamazepine Queen Barb Steals Phen Phen and Refuses Greasy Carbs |
|
P-450 INHIBITORS
|
Sulfonamides
INH Cimetidine Ketoconazole Erythromycin Grapefruit Juice |
|
Drug Suffix:
-afil |
Phosphodiesterase Inhibitor (ED)
|
|
Drug Suffix:
-ane |
Inhalational Anesthetic
|
|
Drug Suffix:
-azepam |
Benzodiazepines
|
|
Drug Suffix:
-azine |
Typical Antipsychotics (+ Haloperidol)
|
|
Drug Suffix:
-azole |
Antifungal drug (blocks synthesis of ergosterol)
|
|
Drug Suffix:
-barbital |
Barbiturate
|
|
Drug Suffix:
-Caine |
Local Anesthetic
|
|
Drug Suffix:
-cillin |
Penicillin (blocks cell wall synthesis)
|
|
Drug Suffix:
-cycline |
Tetracycline (Blocks protein synthesis) Abiotic
|
|
Drug Suffix:
-etine |
SSRI (Fluoxetine, Adamoxetine)
|
|
Drug Suffix:
-ipramine |
Tricyclic Antidepressants
|
|
Drug Suffix:
-navir |
Protease Inhibitor (HIV)
|
|
Drug Suffix:
-olol |
Beta Blocker
|
|
Drug Suffix:
-operidol |
Neuroleptic (antipsychotic)
|
|
Drug Suffix:
-oxin |
Cardiac Glycoside (Inotropic Agents)
|
|
Drug Suffix:
-phylline |
Methylxanthine (Theophylline0
|
|
Drug Suffix:
-pril |
ACE-I
|
|
Drug Suffix:
-terol |
B2 Agonist
|
|
Drug Suffix:
-tidine |
H2 Agonist (Acid Blocker)
|
|
Drug Suffix:
-triptan |
Serotonin 1A agonists (Migraine/Cluster)
|
|
Drug Suffix:
-triptyline |
Tricyclic Antidepressant
|
|
Drug Suffix:
-tropin |
Pituitary Hormone
|
|
Drug Suffix:
-zosin |
Alpha-1 adrenergic ANTAGONIST
|
|
Type, Name, and Enzyme:
Severe Fasting Hypoglycemia Sig. Increased Glycogen in Liver Inc. Lactate Hepatomegaly |
Glycogen Storage Disease
Von Gierke's (Type I) Glucose 6 Phosphate |
|
Type, Name, and Enzyme:
Cardiomegaly Systemic Findings Early Death |
Glycogen Storage Disease
Pompe's Disease (Type II) Lysosomal alpha 1,4 glucosidase |
|
Mod. Fasting Hypoglycemia
Increased Glycogen in Liver Mod. Hepatomegaly |
Glycogen Storage Disease
Cori's Disease (Type III) Debranching Enzyme (alpha 1,6 glucosidase) |
|
Type, Name, and Enzyme:
Inc. Glycogen in Muscle Painful Muscle Cramps Myoglobinuria |
Glycogen Storage Disease
McArdle's (Type V) Glycogen Phosphorylase |
|
Effects of Insulin
|
Decreases
Blood Glucose Level (Increases uptake by muscles and adipose tissue and increases glycogen storage) AA (inc. protein anabolism) FA (inc. TG synthesis) K+ (inc. uptake into cells) |
|
Effects of Glucagon
|
Increases:
BGL (inc. glycogen phosphorylase and gluconeogenesis) AA (inc. protein catabolism) FA (inc. lipolysis) K+ KETONES (inc. Acetyl CoA --> fast depletion of TCA intermediates --> depletion of oxaloacetate and shunting toward ketone synthase) |
|
Type, Name, and Enzyme:
Peripheral Neuropathy Angiokeratomas Cardiovascualr/Renal Disease Young |
Lysosomal Storage Disorder (Sphingolipid)
Fabry's Disease Alpha-galactosidase A X-linked Recessive Ceramide Trihexoside builds up |
|
Type, Name, and Enzyme:
Hepatosplenomegaly Aseptic Necrosis of Femur Bone Crises |
Lysosomal Storage Disorder
Gaucer's Disease (most common) Beta-glucocerebrosidase Autosomal Recessive Glucocerebroside builds up |
|
Type, Name, and Enzyme:
Progressive Neurodegeneration Cherry Red Macula Hepatosplenomegaly |
Lysosomal Storage Disease
Niemann-Pick Disease Sphingomyelinase Autosomal Recessive Sphingomyelin builds up |
|
Type, Name, and Enzyme:
Progressive Neurodegeneration Cherry Red Macula Onion-Skin Lysosomes |
Lysosomal Storage Disorder
Tay-Sachs Disease Hexosaminidase Autosomal Recessive GM2 Ganglioside |
|
Type, Name, and Enzyme:
Peripheral Neuropathy Developmental Delay Optic Atrophy Globoid Cells |
Lysosomal Storage Disorder
Krabbe's Disease Galactocerebrosidase deficiency Autosomal Recessive Galactocerebroside builds up |
|
Type, Name, and Enzyme:
Central and Peripheral Demyelination Ataxia Dementia |
Lysosomal Storage Disease
Metachromatic Leukodystrophy Arylsulfatase Deficiency Autosomal Recessive Sulfatides build up |
|
Type, Name, and Enzyme:
Developmental Delay Gargoylism Airway Obstruction Corneal Clouding |
Mucopolysaccharidosis (lysosomal storage disorder)
Hurler's Syndrome alpha-L-Iduronidase deficiency Autosomal Recessive Heparan & Dermatan Sulfate |
|
Type, Name, and Enzyme:
Mild Developmental Delay Aggressive Behavior No Corneal Clouding |
Mucopolysaccharide Storage Disease
Hunter's Syndrome Iduronate Sulfatase X-Linked Recessive |
|
X-Linked Recessive Disorders
|
Be Wise Fool's GOLD Heeds False Hope
Bruton's Agammaglobulinemia Wiskott-Aldrich Fragile X G6PD Deficiency Ocular Albinism Lesch Nyhan Syndrome Duchenne's Muscular Dystrophy Hemophilia Fabry's Disease Hunter's Syndrome Also, Rett's Disease (hand-wringing) |
|
Name, Mutation, and Gene:
Pelvic Girdle Weakness Calf Pseudohypertrophy Uses Upper Extremities to Stand Up Onset Young |
Duchenne's Muscular Dystrophy
X-Linked Recessive Frame-shift mutation in dystrophin gene |
|
Name, Mutation, and Gene:
Pelvic Girdle Weakness Calf Pseudohypertrophy Uses Upper Extremities to Stand Up Milder Disease Onset Teens/20s |
Becker's Muscular Dystrophy
X-Linked Recessive Mutation in Dystrophin Gene |
|
Name, Mutation, and Gene:
Macro-orchidism (large testicles) Long face, Large Jaw Large Everted Ears Mental Retardation |
Fragile X Syndrome
X-Linked Recessive Disorder Methylation defect in FMR1 gene |
|
Name, Mutation, and Gene:
Recurrent Pulmonary Infections Chronic Bronchitis Bronchiectasis Steatorrhea and Malabsorption |
Cystic Fibrosis
Autosomal Recessive Defect in CTFR gene (delta F-508) Defective Cl- channel Chloride Sweat Test = confirmatory Nasal Polyps = CF until proven otherwise |
|
Name, Mutation, and Gene:
Short Arms with Normal Head and Trunk Size |
Achondroplasia
Autosomal Dominant Cell-signaling Defect in FGFR3 Advanced Paternal Age |
|
Name, Mutation, and Gene:
Bilateral Cystic Enlargement of Kidneys Flank Pain/Hematuria Hypertension |
Adult Polycystic Kidney Disease
Autosomal Dominant Mutation in ADPKD1 on Chromosome 16 Ass'd with Berry Aneurysms, Mitral Valve Prolapse |
|
Name, Mutation, and Gene:
Post-puberty lots of colonic polyps |
Familal Adenomatous Polyposis
Autosomal Dominant APC Gene (Chromosome 5 "polyp") |
|
Name, Mutation, and Gene:
Elevated LDL >300 Tendinous Xanthomas Severe Atherosclerosis |
Hypercholesterolemia Type IIA
Defective LDL Receptor (B-100R) Ass'd with Early MIs |
|
Name, Mutation, and Gene:
Telangectasias Recurrent Nose Bleeds Arteriovenous Malformations |
Hereditary Hemorrhagic Telangectasia (Osler-Weber-Rendu)
Autosomal Dominant Defect in Blood Vessels |
|
Name, Mutation, and Gene:
Progressive Dementia Chorea Depression |
Huntington's Disease
Autosomal Dominant CAG Trinucleotide Repeat in Chromosome 4 Symptoms ass'd with Caudate Atrophy. Manifests between 20 and 50 |
|
Name, Mutation, and Gene:
Tall with Long Extremities Indentation in his Chest (Pectus Excavatum) Hyperextensive Joints Long Tapering Fingers/Toes (Arachnodactyly) |
Marfan's Syndrome
Autosomal Dominant Ass'd with Cystic Medial Necrosis of Aorta, aortic root dilatation, and Berry Aneurysms Also, subluxation of lenses |
|
Name, Mutation, and Gene:
Pancreatic Mass Hypocalcemia Hyperprolactinemia |
MEN 1 - Pancreas, Parathyroids, Pituitary
Autosomal Dominant MEN2 ass'd with pheochromocytoma and Medullary Thyroid Carcinoma (high calcitonin) A - Parathyroid B - Gangliomas |
|
Name, Mutation, and Gene:
Hyperpigmented Macules Pigmented Tumors of the Iris Nodules on Skin |
Neurofibromatosis Type I (Von Recklinghausen's Disease)
Autosomal Disease Chromosome 17, NF1 gene Ass'd with Pheochromocytoma, and optic gliomas |
|
Name, Mutation, and Gene:
Sensorineural Hearing Loss Both Ears Bilateral Acoustic Neuromas |
Neurofibromatosis Type II
Autosomal Dominant NF2 gene on Chromosome 22 |
|
Name, Mutation, and Gene:
Hypopigmented Macules Seizures Cortical Tumors |
Tuberous Sclerosis
Autosomal Dominant Ass'd with Cardiac Rhabdomyosarcomas, and Renal Angiomyolipomas |
|
Name, Mutation, and Gene:
Cavernous Hemangiomas Blood vessel tumors of Cerebellum, Retina, Medulla |
Von-Hippel Lindau Disease
Autosomal Dominant Deletion of VHL Gene Chromosome 3. --> Consititutive expression of transcription factor Ass'd with Bilateral Renal Cell Carcinomas |
|
Name, Mutation, and Gene:
Mental Retardation Flat Facies Simian Crease |
Down's Syndrome
Trisomy 21 Ass'd with Duodenal Atresia, Endocardial Cushion Defects (ASD - septum primum type). Increased risk of ALL and Alzheimer's Disease Prenatal Screen: Decreased AFP, Increased b-HCG, Decreased Estriol |
|
Name, Mutation, and Gene:
Mental Retardation Rocker Bottom Feet Small Jaw Clenched Hands Prominent Occiput |
Edward's Syndrome
Trisomy 18 Death within 1 year of Life |
|
Name, Mutation, and Gene:
Severe Mental Retardation Rocker Bottom Feet Holoproscencephaly Cleft Lip/Palate Polydactyly |
Patau's Syndrome
Trisomy 13 Death Within 1 year of Life |
|
Name, Mutation, and Gene:
Microcephaly Mental Retardation High Pitched Crying/Mewing Epicanthal Folds |
Cri-du-chat
Microdeletion of chromosome 5p |
|
Name, Mutation, and Gene:
Elven Facies Mental Retardation Good Verbal Skills Cheerful Disposition |
Williams Syndrome
Microdeletion of Chromosome 7 |
|
Name, Mutation, and Gene:
T-cell Deficiency Hypocalcemia Recurrent Infections |
DiGeorge Syndrome
22.11q deletion syndrome (3rd & 4th Branchial Pouches) Ass'd with Truncus Arteriosus and Tetralogy of Fallot |
|
Name, Mutation, and Gene:
Palatal Defects Facial Defects Cardiac Defects |
Velocardialfacial syndrome
22.11q deletion syndrome |
|
Name, Mutation, and Gene:
Hyperextensible Skin Tendency to Bleed/Bruise Hypermobile Joints |
Ehler's Danlos Syndrome
Type III Collagen Defect Ass'd with Berry Aneurysms and Organ Rupture |
|
Name, Mutation, and Gene:
Multiple Fx with Minimal Trauma Blue Sclera Hearing Loss |
Osteogenesis Imperfecta
Autosomal Dominant Defect in Type I Collagen Synthesis |
|
Name, Mutation, and Gene:
Progressive Nephritis Progressive Deafness |
Alport's Syndrome (Eyes, Ears, Kidneys)
X-Linked Recessive |
|
Defect in Cleavage of Terminal Disulfide bonds of Collagen
|
Ehlers-Danlos Syndrome
|
|
Defect in Glycosylation of Lysine Residues in Collagen
|
Osteogenesis Imperfecta
|
|
Defect in Hydroxylation of Proline/Lysine in Collagen Synthesis
|
Vitamin C Deficiency (Scurvy)
|
|
Name, Mutation, and Gene:
Coarse Facies Clouded Corneas High Levels of Lysosomal Enzymes |
I-Cell Disease
Failure to attach 6-Mannose Phosphate to lysosomal proteins, hence they get secreted. |
|
Name, Mutation, and Gene:
Hemolytic Anemia in Response to Infection or Oxidative Stress |
G6PD Deficiency
X-linked enzyme Deficiency Inability to produce enough NADPH which is needed for neutrophils to get rid of reactive oxygen species NADPH deficiency |
|
Name, Mutation, and Gene:
Hypoglycemia Jaundice Cirrhosis Infant |
Fructose Intolerance
Autosomal Recessive Deficiency of Aldolase B Frutose 1-P builds up and uses all the phosphate, so glycolysis and gluconeogenesis are decreased |
|
Name, Mutation, and Gene:
Fructose in Blood and Urine Asymptomatic |
Essential Fructosuria
Fructokinase Deficiency |
|
Name, Mutation, and Gene:
Failure to Thrive Jaundice Infantile Cataracts Mental Retardation |
Classic Galactosemia
Autosomal Recessive Deficieny of Galactose 1 phosphate Uridyl-transferase Galactose 1 P builds up --> Galactitol |
|
Name, Mutation, and Gene:
Infantile Cataracts Galactose in blood and urine |
Galactokinase Deficiency
Autosomal recessive Deficiency of Galactokinase |
|
Name, Mutation, and Gene:
Orotic Acid in Blood and Urine Decreased BUN, High Ammonia (NH3) Somnolence Vomiting |
Ornithine Transcarbamoylase Deficiency (OTC)
X-Linked Recessive Disorder |
|
Name, Mutation, and Gene:
Hyperammonemia (High NH3) Somnolence Vomiting |
Carbamoyl Phosphate Synthase I Deficiency
Autosomal Recessive Disorder NO increase in Orotic Acid because Carbamoyl Phosphate not generated, hence cannot be shunted to purine synthesis --> orotic acid |
|
Name, Mutation, and Gene:
Mental Retardation Seizures Fair skin Musty Body Odor |
Phenylketonuria
Autosomal Recessive Deficiency of Tyrosine Hydroxylase Phenyllactate, phenylpyruvate increased in urine |
|
Name, Mutation, and Gene:
Dark Connective Tissue Pigmented Sclera Urine Turns Dark on Standing |
Alkaptonuria
Autosomal Recessive Deficiency of Homogentistic Acid Oxidase Ass'd with ARTHRALGIA |
|
Name, Mutation, and Gene:
Pale skin all over |
Albinism
Autosomal Recessive Inheritance Deficiency of Tyrosinase Ass'd with increased risk of skin cancer Partial Albinism can result from lack of neural crest cell migration |
|
Name, Mutation, and Gene:
Recurrent Kidney Stones Decreased levels of neutral amino acids in blood |
Cystinuria
Autosomal Recessive Tx: Acetazolamide to alkalinize the urine |
|
Name, Mutation, and Gene:
Sweet Smelling Urine Severe CNS Defects Mental Retardation |
Maple Syrup Urine Disease
Autosomal Recessive Deficiency of Alpha-ketoacid Dehydrogenase (branched chain amino acid dehydrogenase) |
|
Name, Mutation, and Gene:
Mental Retardation Self-Mutilation Aggression Hyperuricemia Gout |
Lesch-Nyhan Syndrome
X-Linked Recessive Deficiency of HGPRT (leading to the inability to salvage Purines by shunting everything to the xanthine oxidase pathway) |
|
Name, Mutation, and Gene:
Elevated Triglycerides Elevated Cholesterol |
Type I Hypercholesterolemia
Autosomal Recessive Lipoprotein Lipase Deficiency or Altered ApoC-II Increased Chylomicrons in the Blood |
|
Name, Mutation, and Gene:
Elevated Triglycerides |
Type IV Hypercholesterolemia
Autosomal Recessive Overproduction of VLDL by Liver Increased VLDL in blood |
|
Name, Mutation, and Gene:
Failure to Thrive Steatorrhea Ataxia Night Blindness |
Abetalipoproteinemia
Inability to synthesize ApoB-48 and Apo B-100. |
|
Rate Limiting Step:
Glycolysis |
Phosphofructokinase 1
PFK1 |
|
Rate Limiting Step:
Gluconeogenesis |
Fructose 1,6 Bisphosphatase (place as PFK1, just opposite direction)
|
|
Rate Limiting Step:
TCA Cycle |
Isocitrate Dehydrogenase
|
|
Rate Limiting Step:
Ketogenesis |
HMG Co-A Synthase
|
|
Rate Limiting Step:
Glycogen Synthesis |
Glycogen Synthase
|
|
Rate Limiting Step:
Glycogenolysis |
Glycogen Phosphorylase
|
|
Rate Limiting Step:
HMP Shunt |
Glucose-6-Phosphate Dehydrogenase (G6PD)
|
|
Rate Limiting Step:
Pyrimidine Synthesis |
Carbamoyl Phosphate Synthase II
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Purine Synthesis |
Glutamine-PRPP Aminotransferase
Remember that Purines are made of GAG (glutamine, glycine, aspartate) |
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Urea Cycle |
Carbamoyl Phosphate Synthase I
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Fatty Acid Synthesis |
Acetyl-CoA Carboxylase (biotin)
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Fatty Acid Oxidation |
Carnitine Acyltransferase 1 (CAT-1)
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Cholesterol Synthesis |
HMG-CoA Reductase
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