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Ataraxia Shared "ASAP" - 18 Picmonics

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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
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3 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
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
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
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
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1 min
Pyruvate Dehydrogenase Deficiency
Characteristics
X-Linked
Acquired from Thiamine Deficiency
Backup of Alanine and Pyruvate
Symptoms and Complications
Neurologic Defects
Lactic Acidosis
Interventions
Ketogenic Nutrients
Lysine and Leucine (Ketogenic Nutrients)
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2 mins
Hyperammonemia
Pathophysiology
Hereditary Urea Cycle Defects
Acquired Through Liver Disease
Inhibits the Citric Acid Cycle
Signs & Symptoms
Somnolence
Slurring of Speech
Tremor
Cerebral Edema
Vomiting
Blurring of Vision
Treatment
Limit Protein in Diet
Lactulose
Benzoate Binds Amino Acid for Excretion
Phenylbutyrate
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4 mins
Vitamin B1 (Thiamine)
Mechanism
Branched-chain Ketoacid Dehydrogenase
Pyruvate Dehydrogenase
Alpha-ketoglutarate Dehydrogenase
Transketolase
DEFICIENCY EFFECTS
Wernicke-Korsakoff Syndrome
Beriberi
ATP Depletion
Aerobic Tissues Like Brain and Heart Affected First
Considerations
Deficiency Can Worsen with Glucose Infusion
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2 mins
Beriberi (Thiamine Deficiency)
Thiamine Deficiency
Dry Beriberi
Polyneuritis
Muscle Wasting
Wet Beriberi
Dilated Cardiomyopathy
Edema
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51 secs
Folate Deficiency
Clinical Features
Macrocytic Anemia
Megaloblastic Anemia
Etiologies
Malabsorption
Dietary
Tea and Toast
Alcoholics
Medication-induced
Methotrexate
Trimethoprim
Increased Requirement
Hemolytic Anemia
Pregnancy
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2 mins
Zinc Deficiency
Mechanism
Used in Over 100 Enzymes
Zinc Finger Formation
Signs and Symptoms
Delayed Wound Healing
Hypogonadism
Decreased Adult Hair
Dysgeusia
Anosmia
Perioral Rash
Acrodermatitis Enteropathica
Increased Risk in Patients with Cirrhosis
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2 mins
Iron (Ferrous Sulfate)
Mechanism
Ferrous Salts
Indications
Anemia
Side Effects
GI Distress
Nausea and Vomiting
Dark Stools
Considerations
Take Between Meals
Liquid can Stain Teeth
Keep out of Reach from Children
Caution with GI Disorders
Avoid Antacids
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3 mins
Biotin (Vitamin B7)
Mechanism
Carboxylation Reaction
Pyruvate Carboxylation to Oxaloacetate
Propionyl-CoA Carboxylation to Methylmalonyl-CoA
Acetyl-CoA Carboxylation to Malonyl CoA
Deficiency Causes
Antibiotic Use
Ingestion of Raw Eggs
Signs & Symptoms
Alopecia
Dermatitis
Enteritis
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2 mins
Vitamin B3 (Niacin)
Derived from Tryptophan
Synthesis Requires Vitamin B6
Constituent of NAD+
Deficiency Causes
Hartnup Disease
Carcinoid Syndrome
Deficiency Symptoms
Pellagra
Diarrhea
Dermatitis
Dementia
Glossitis
Excess Symptoms
Flushing
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2 mins
Vitamin B5 (Pantothenate)
Mechanism
Pantothenate
Pyruvate Dehydrogenase
Coenzyme A
Fatty Acid Synthase
Deficiency Signs and Symptoms
Enteritis
Dermatitis
Alopecia
Adrenal Insufficiency
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2 mins
Vitamin B6 (Pyridoxine) Deficiency
Deficiency From Isoniazid
Deficiency From Oral Contraceptives
Seizures
Hyperirritability
Peripheral Neuropathy
Sideroblastic Anemia
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3 mins
Vitamin B12 (Cobalamin) Deficiency Causes
Causes
Vegans
Pernicious Anemia
Gastric Bypass Surgery
Malabsorption
Sprue
Enteritis
Crohn's Disease
Diphyllobothrium latum
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4 mins
Riboflavin (Vitamin B2)
Classification
Vitamin B2
Biochemistry
FAD
FAD Makes 1.5 ATP
Succinate to Fumarate
DEFICIENCY
Glossitis
Cheilosis
Corneal Vascularization
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2 mins

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Ataraxia Shared ASAP - 18 Picmonics