Dave Shared "Metabolism + Vit" - 44 Picmonics
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Metabolism + Vit
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
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
4 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
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
Niemann-Pick Disease
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
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
- Hypopigmentation
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
Gout Treatment
- Acute (Acute-angle)
- NSAIDs
- Glucocorticoids
- Colchicine
- Impairs Leukocyte Chemotaxis
- Chronic Gout (Crone Goat)
- Inhibit Xanthine Oxidase
- Allopurinol
- Febuxostat
- Inhibit Reabsorption of Uric Acid
- Probenecid
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
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
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
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
2 mins
Wernicke-Korsakoff Syndrome
- Thiamine deficiency
- Confusion
- Ophthalmoplegia
- Ataxia
- Korsakoff
- Confabulation
- Personality Changes
- Memory loss
- Alcoholics
- Damage to medial dorsal nucleus
- Damage to mammillary bodies
2 mins
Beriberi (Thiamine Deficiency)
- Thiamine Deficiency
- Dry Beriberi
- Polyneuritis
- Muscle Wasting
- Wet Beriberi
- Dilated Cardiomyopathy
- Edema
51 secs
Riboflavin (Vitamin B2)
- Classification
- Vitamin B2
- Biochemistry
- FAD
- FAD Makes 1.5 ATP
- Succinate to Fumarate
- DEFICIENCY
- Glossitis
- Cheilosis
- Corneal Vascularization
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
2 mins
Vitamin B5 (Pantothenate)
- Mechanism
- Pantothenate
- Pyruvate Dehydrogenase
- Coenzyme A
- Fatty Acid Synthase
- Deficiency Signs and Symptoms
- Enteritis
- Dermatitis
- Alopecia
- Adrenal Insufficiency
2 mins
Vitamin B6 (Pyridoxine)
- Pyridoxal Phosphate
- Mechanism
- Transamination
- Decarboxylation
- Glycogen Phosphorylase
- Cystathionine Synthase
- Functions
- Heme Synthesis
- Niacin Synthesis
- Neurotransmitter Synthesis
2 mins
Vitamin B6 (Pyridoxine) Deficiency
- Deficiency From Isoniazid
- Deficiency From Oral Contraceptives
- Seizures
- Hyperirritability
- Peripheral Neuropathy
- Sideroblastic Anemia
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
2 mins
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