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 (Mental Retardation)
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 (Mental Retardation)
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 (Mental Retardation)
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 Porphyrins
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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