Justin Shared "MFM Exam 6" - 40 Picmonics
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MFM Exam 6
Urea Cycle
- Mitochondria
- N-Acetylglutamate
- Carbamoyl Phosphate Synthetase I
- NH3 + CO2
- Carbamoyl Phosphate
- Ornithine Transcarbamylase
- Citrulline
- Cytosol
- Aspartate
- Argininosuccinate
- Fumarate
- Arginine
- H2O to Urea
- Ornithine
3 mins
Cystinuria
- Pathophysiology
- Defect of Renal Tubular Amino Acid Transporter
- C-O-L-A Acronym
- Cystine
- Ornithine
- Lysine
- Arginine
- Signs and Symptoms
- Excess Cystine in Urine
- Hexagonal Crystals
- Staghorn Kidney Stones
- Diagnosis
- Cyanide Nitroprusside Test
- Treatment
- Acetazolamide to Alkalinize the Urine
3 mins
Alkaptonuria
- Autosomal Recessive
- Deficiency of homogentisic acid oxidase
- In degradative pathway of tyrosine to fumarate
- Homogentisic acid harmful to cartilage
- Arthritis
- Dark Connective Tissue
- Urine turns black on standing
1 min
Homocystinuria
- Pathophysiology
- Autosomal Recessive
- 4 Forms
- Cystathionine Synthase Deficiency
- Decreased Affinity of Cystathionine Synthase For Vitamin B6
- Methionine Synthase Deficiency
- Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
- Signs and Symptoms
- Marfanoid Body Habitus
- Kyphosis
- Lens Subluxation (Inferior)
- Intellectual Disability
- Atherosclerosis
- Consideration
- Dietary Deficiencies Can Elevate Homocysteine Levels
3 mins
Ornithine Transcarbamylase Deficiency
- Pathophysiology
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Signs and Symptoms
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
3 mins
Phenylketonuria (PKU)
- Pathophysiology
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Symptoms
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
2 mins
Maple Syrup Urine Disease
- Pathophysiology
- Defect in alpha ketoacid dehydrogenase
- Blocked degradation of branched chain amino acids
- Leucine
- Isoleucine
- Valine
- Signs and Symptoms
- Seizures
- Intellectual Disability
1 min
Kwashiorkor
- Protein Deficiency
- Swollen Belly
- MEALS
- Malnutrition
- Edema
- Anemia
- Liver Malfunction
- Skin Lesions
2 mins
Marasmus
- Deficiency of all Nutrients
- Body Weight < 60% of Normal
- Tissue and Muscle Wasting
- Loss of Subcutaneous Fat (Buttocks and Thighs)
- Variable Edema
2 mins
Acute Intermittent Porphyria (AIP)
- Pathophysiology
- Autosomal Dominant
- Inhibited Porphobilinogen Deaminase
- Increased Serum Porphobilinogen
- Increased Serum Delta-ALA
- Increased Urinary Porphyrin Precursors
- Signs & Symptoms
- Precipitated By P450 Inducers
- Painful Abdomen
- Polyneuropathy
- Psychological Disturbances
- Port Wine-Colored Urine
- Treatment
- Glucose and Hemin
- Considerations
- Avoid Triggers
3 mins
Porphyria Cutanea Tarda (PCT)
- Pathophysiology
- Inhibited Uroporphyrinogen Decarboxylase (UROD)
- Most Common Porphyria
- 20% Autosomal Dominant
- 80% Sporadic Type
- Hepatitis C Association
- Signs & Symptoms
- Photosensitivity
- Blistering of Skin
- Tea Colored Urine
- Diagnosis
- Increased Uroporphyrins (Urinary & Serum)
- Treatment
- Avoid Sunlight
- Phlebotomy
- Hydroxychloroquine (Low Dose)
3 mins
Graves' Disease Labs and Treatment
- Labs
- Decreased TSH
- Increased T3
- Increased T4
- Radioactive Iodine Uptake (RAIU)
- Treatment
- Beta blocker
- Methimazole
- Radioiodine Ablation
1 min
Hyperbilirubinemia
- Cause/Mechanism
- Increased Unconjugated Bilirubin
- Assessment
- Jaundice
- Kernicterus
- Interventions
- Early Feedings
- Heme Oxygenase Inhibitors
- Phototherapy
- Protect Eyes
- Monitor for Dehydration
- Considerations
- Monitor Bilirubin Levels
3 mins
Gilbert's Syndrome
- Pathophysiology
- Decreased UDP-Glucuronosyltransferase Activity
- Decreased Bilirubin Conjugation
- Signs and Symptoms
- Often Asymptomatic
- Jaundice (Mild)
- Fasting
- Stress
- Alcohol Intake
- Labs
- Increased Unconjugated Bilirubin
2 mins
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Iron Deficiency Anemia
- Causes
- Malnutrition/Malabsorption
- Hemorrhage
- Signs
- Microcytic, Hypochromic Anemia
- Decreased Heme Synthesis
- Labs
- Decreased Reticulocytes
- Decreased Ferritin
- Increased Red Cell Distribution Width (RDW)
- Poikilocytosis
- Anisocytosis
- Increased Central Pallor
2 mins
Lesch-Nyhan Syndrome
- X-linked Recessive
- Absence of HGPRT
- Hypoxanthine to IMP
- Guanine to GMP
- Excess uric acid
- Gout
- Retardation
- Self-mutilation
- Choreoathetosis
- PRPP is increased
2 mins
Gout Disease
- Acute Inflammatory Monoarthritis
- Epidemiology
- Primarily in Males
- Pathophysiology
- Precipitation of Monosodium Urate Crystals
- Underexcretion of Uric Acid
- Overproduction of Uric Acid
- Negatively Birefringent, Needle-Shaped
- Symptoms
- Swollen, Red, Painful Joint
- Asymmetric Joint Distribution
- Podagra
- Tophus
- After Large Meal or Alcohol
2 mins
Adenosine Deaminase Deficiency
- Adenosine to Inosine
- Excess ATP
- Inhibition of Ribonucleotide Reductase
- Prevents DNA Synthesis
- Decreases B Cells and T Cells
- Major cause of SCID
1 min
Severe Combined Immunodeficiency (SCID)
- Both B and T Cell Deficiency
- Recurrent Viral, Bacterial, Fungal, Protozoal Infections
- Defective Interleukin (IL) 2 Receptor
- X-Linked
- Adenosine Deaminase Deficiency
- Failure to Synthesize MHC II Antigens
- Treat with Bone Marrow Transplant
2 mins
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