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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
Rate Limiting Step:
Purine Synthesis
Glutamine-PRPP Aminotransferase
Remember that Purines are made of GAG (glutamine, glycine, aspartate)
Rate Limiting Step:
Urea Cycle
Carbamoyl Phosphate Synthase I
Rate Limiting Step:
Fatty Acid Synthesis
Acetyl-CoA Carboxylase (biotin)
Rate Limiting Step:
Fatty Acid Oxidation
Carnitine Acyltransferase 1 (CAT-1)
Rate Limiting Step:
Cholesterol Synthesis
HMG-CoA Reductase