Madeline Shared "GI II" - 27 Picmonics
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GI II
Orotic Aciduria
- Pathophysiology
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Symptoms
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Treatment
- Oral Uridine Monophosphate
2 mins
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
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
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
Galactokinase Deficiency
- Autosomal Recessive
- Galactose to Galactose 1P
- Galactose Appears in Blood and Urine
- Benign
- Infantile Cataracts
- Failure to Develop a Social Smile
2 mins
Classic Galactosemia
- Pathophysiology
- Autosomal Recessive
- Galactose-1-phosphate uridyltransferase is Absent (GALT)
- Impaired Galactose-1-P to UDP-Galactose
- Galactitol Accumulation in Lens
- Signs and Symptoms
- Infantile Cataracts
- Failure to Thrive
- Hepatomegaly
- Jaundice
- Intellectual Disability
- Increased Risk E. Coli Sepsis
2 mins
Essential Fructosuria
- Autosomal Recessive
- Defect in fructokinase
- Fructose to fructose 1-P
- Benign
- Fructose appears in blood and urine
- Fructose does not enter cells
54 secs
Fructose Intolerance
- Pathophysiology
- Deficiency of Aldolase B
- Fructose 1-P To DHAP And GA
- Accumulation Of Fructose-1-Phosphate
- Inhibition Of Glycogenolysis
- Inhibition Of Gluconeogenesis
- Clinical Features
- Hypoglycemia
- Vomiting
- Jaundice
- Cirrhosis
- Autosomal Recessive
2 mins
Von Gierke Disease
- Pathophysiology
- Autosomal Recessive
- Type I Glycogen Storage Disease
- Glucose-6-Phosphatase Deficiency
- Signs and Symptoms
- Increased Glycogen in Liver
- Hepatomegaly
- Enlarged Kidneys
- Severe Fasting Hypoglycemia
- Increased Triglycerides
- Increased Uric Acid (Gout)
- Increased Lactic Acid
- Doll-like Facies
- Treatment
- Continuous Oral Glucose (or Cornstarch)
- Avoid Fructose and Galactose
2 mins
McArdles Disease
- Pathophysiology
- Type V Glycogen Storage Disease
- Muscle Glycogen Phosphorylase Deficiency
- Signs and Symptoms
- Increased Glycogen in Muscle
- Painful Muscle Cramps
- Myoglobinuria
- Normal Lactic Acid
- Treatment
- Vitamin B6
2 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
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
G6PD Mechanism
- Turns NADP+ to NADPH
- NADPH Used by Glutathione Reductase
- Detoxifies Free Radicals and Peroxides
- X-linked Recessive
2 mins
Pyruvate Kinase Deficiency
- Pathophysiology
- Autosomal Recessive
- Defect in Pyruvate Kinase
- Decreased ATP
- Extravascular Hemolysis
- Presentation / Symptoms
- Hemolytic Anemia in a Newborn
- Diagnosis
- RBC Enzyme Assay
- Echinocytes
- Burr Cells
- Small Uniform Projections
- Normocytic Anemia
2 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
Crigler-Najjar Syndrome Type 1
- Pathophysiology
- Autosomal Recessive
- Absent UDP-glucuronosyltransferase
- Symptoms
- Neonatal Jaundice
- Kernicterus
- Diagnosis
- Normal Liver Function Tests
- Elevated Unconjugated Bilirubin
- Treatment
- Phototherapy
- Plasmapheresis
- Calcium Phosphate and Orlistat
- Death often by Age 2
- Considerations
- No Response to Phenobarbital
3 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
Peutz-Jeghers Syndrome
- Mechanism and Characteristics
- Symptomatic Age: 10-30 Years
- LKB1/STK11 Gene Mutation
- Autosomal Dominant
- Signs and Symptoms
- Benign GI Hamartomatous Polyps
- Mucocutaneous Hyperpigmentation
- Positive Family History
- Increased Risk of Colorectal Carcinoma
1 min
