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
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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 (Mental Retardation)
Atherosclerosis
Consideration
Dietary Deficiencies Can Elevate Homocysteine Levels
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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
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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)
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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
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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
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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 (Mental retardation)
Increased Risk E. Coli Sepsis
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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
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53 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
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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
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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
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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
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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
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3 mins
G6PD Mechanism
Turns NADP+ to NADPH
NADPH Used by Glutathione Reductase
Detoxifies Free Radicals and Peroxides
X-linked Recessive
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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
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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
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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
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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
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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)
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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
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1 min

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