Lisa Shared "Step" - 394 Picmonics
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Step
Maternal Phenylketonuria
- Pathophysiology
- Lack of Proper Diet During Pregnancy; Like NutraSweet
- Signs and Symptoms
- Congenital Heart Defects
- Growth Retardation
- Intellectual Disability (Mental Retardation)
- Microcephaly
2 mins
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
Marfan Syndrome
- Mechanism
- Fibrillin-1 Mutation
- Symptoms
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
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
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
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
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
Vitamin K
- Sources
- Dark Green Leafy Vegetables
- Synthesized by Intestinal Flora
- Mechanism
- Activated by Epoxide Reductase
- Gamma Carboxylation of Glutamate
- Activation of Clotting Factors II, VII, IX, X, Protein C and S
- Considerations
- Deficiency with Broad Spectrum Antibiotics
- Neonatal Hemorrhage with Increased PT and aPTT
- Warfarin is a Vitamin K Antagonist
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
Vitamin D Toxicity
- Kidney Stones
- Metastatic Calcification of the Kidney
- Loss of Appetite
- Abdominal Pain
- Sarcoidosis
1 min
Kwashiorkor
- Protein Deficiency
- Swollen Belly
- MEALS
- Malnutrition
- Edema
- Anemia
- Liver Malfunction
- Skin Lesions
2 mins
Vitamin D Deficiency
- Signs & Symptoms
- Rickets in children
- Bending bones
- Rachitic rosary
- Breast milk has decreased vitamin D
- Osteomalacia in adults
- Tetany from Hypocalcemia
2 mins
Krabbe Disease
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid Cells
1 min
Vitamin B6 (Pyridoxine) Deficiency
- Deficiency From Isoniazid
- Deficiency From Oral Contraceptives
- Seizures
- Hyperirritability
- Peripheral Neuropathy
- Sideroblastic Anemia
3 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 B5 (Pantothenate)
- Mechanism
- Pantothenate
- Pyruvate Dehydrogenase
- Coenzyme A
- Fatty Acid Synthase
- Deficiency Signs and Symptoms
- Enteritis
- Dermatitis
- Alopecia
- Adrenal Insufficiency
2 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
Vitamin B12 (Cobalamin) Mechanism and Deficiency
- Mechanism
- Cobalamin
- Large reserve pool in the liver
- Homocysteine to methionine
- Methylmalonyl CoA to succinyl CoA
- Deficiency Signs and Symptoms
- Macrocytic Megaloblastic Anemia
- Hypersegmented Neutrophils
- Neurologic defects
- Posterior column
- Lateral corticospinal tract
- Spinocerebellar tract
5 mins
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
Vitamin A (Retinol) Function and Deficiency
- Mechanism
- Retinol
- Constituent of Visual Pigments
- Differentiation of Epithelial Cells into Specialized Tissue
- Signs and Symptoms
- Night Blindness
- Dry Skin
- Considerations
- Used to Treat Measles
- Antioxidant
2 mins
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