Tyler Shared "HODI - Week 5 - metabolism" - 26 Picmonics

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HODI - Week 5 - metabolism

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
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
Hemoglobin A1c Lab Value
4-6%
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Diabetic Ketoacidosis (DKA) Signs and Symptoms
Kussmaul respirations
Dehydration
Abdominal Pain
Nausea/vomiting
Psychosis
Fruity breath Odor
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1 min
Diabetic Ketoacidosis (DKA) Diagnosis and Labs
Diagnosis
Blood glucose Increased > 250 mg/dL
Anion gap metabolic acidosis
Decreased pH < 7.3
Decreased serum bicarbonate < 18
Plasma ketones
Other Labs
Hyperkalemia
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Diabetic Ketoacidosis (DKA) Treatment
Initial Management
IV Normal Saline
Regular Insulin Drip
Subsequent Management (correction of electrolytes)
Potassium (K+)
Glucose
Treat Underlying Cause
Monitoring
Venous pH
Serum Bicarbonate (HCO3)
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1 min
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
Metformin
Indications
Diabetes Mellitus Type 2
Polycystic Ovary Syndrome (PCOS)
Mechanism of Action
Decreased Gluconeogenesis
Increased Insulin Sensitivity
Side Effects
Lactic Acidosis
GI Distress
Weight Loss
B12 Deficiency
Contraindication
GFR < 30 ml/min
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2 mins
Insulin
Rapid Acting
Insulin Lispro (Humalog)
Insulin Aspart (Novolog)
Insulin Glulisine (Apidra)
Short Acting
Regular Insulin (Humulin R)
Intermediate Acting
Isophane NPH (Humulin N)
Long Acting
Detemir (Levemir)
Glargine (Lantus)
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2 mins
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
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1 min
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
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1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
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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
Marasmus
Deficiency of all Nutrients
Body Weight < 60% of Normal
Tissue and Muscle Wasting
Loss of Subcutaneous Fat (Buttocks and Thighs)
Variable Edema
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2 mins
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
Kwashiorkor
Protein Deficiency
Swollen Belly
MEALS
Malnutrition
Edema
Anemia
Liver Malfunction
Skin Lesions
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2 mins
Chlorpropamide and Tolbutamide (Orinase) (1st Generation Sulfonylureas)
Mechanisms
1st Generation Sulfonylureas
Stimulate Release of Insulin
Indications
Type 2 Diabetes
Side Effects
Hypoglycemia
Possible Cardiovascular Toxicity
Considerations
Beta-blockers Reduce Effects
Avoid During Pregnancy and Breast Feeding
Avoid Alcohol
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2 mins
Glyburide and Glipizide (2nd Generation Sulfonylureas)
Mechanisms
2nd Generation Sulfonylureas
Blocks Potassium Channels in Beta Cells
Stimulate Release of Insulin
Indications
Type 2 Diabetes
Side Effects
Hypoglycemia
Considerations
More Potent
Beta Blockers Reduce Effects
Avoid Alcohol
Avoid Breastfeeding
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2 mins

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