Nicole Shared "Biochemistry Diseases" - 65 Picmonics
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Biochemistry Diseases
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
Beriberi (Thiamine Deficiency)
- Thiamine Deficiency
- Dry Beriberi
- Polyneuritis
- Muscle Wasting
- Wet Beriberi
- Dilated Cardiomyopathy
- Edema
51 secs
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
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) Deficiency
- Deficiency From Isoniazid
- Deficiency From Oral Contraceptives
- Seizures
- Hyperirritability
- Peripheral Neuropathy
- Sideroblastic Anemia
3 mins
Vitamin B6 (Pyridoxine)
- Pyridoxal Phosphate
- Mechanism
- Transamination
- Decarboxylation
- Glycogen Phosphorylase
- Cystathionine Synthase
- Functions
- Heme Synthesis
- Niacin Synthesis
- Neurotransmitter Synthesis
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
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
4 mins
Vitamin D Mechanism
- 25 OH in the liver
- 1,25 OH in the kidney
- Absorbs Calcium and Phosphorus
42 secs
Vitamin C Mechanism and Deficiency
- Mechanism
- Ascorbic acid
- Antioxidant
- Protects Against Free Radicals
- Keeps Iron in Reduced State
- Hydroxylation of Proline and Lysine
- Necessary for Dopamine B Hydroxylase
- Deficiency Signs and Symptoms
- Scurvy
- Swollen Gums
- Bruising
- Poor Wound Healing
- Hemarthrosis
- Perifollicular Hemorrhages
- Anemia
4 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 E Deficiency
- Mechanism
- Antioxidant
- Protects Erythrocytes
- Protects from Free Radical Damage
- Deficiency Signs and Symptoms
- Hemolytic Anemia
- Posterior Column
- Spinocerebellar Tract
2 mins
Hunter Syndrome
- Pathophysiology
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- Signs and Symptoms
- No Corneal Clouding
- Aggressive Behavior
1 min
Krabbe Disease
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid Cells
1 min
Huntington's Disease
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Signs and Symptoms
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
3 mins
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
2 mins
Kwashiorkor
- Protein Deficiency
- Swollen Belly
- MEALS
- Malnutrition
- Edema
- Anemia
- Liver Malfunction
- Skin Lesions
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
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
Marasmus
- Deficiency of all Nutrients
- Body Weight < 60% of Normal
- Tissue and Muscle Wasting
- Loss of Subcutaneous Fat (Buttocks and Thighs)
- Variable Edema
2 mins
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