Peter Shared "Neuro SL Storage Disorders" - 12 Picmonics
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Neuro SL Storage Disorders
- Pathophysiology
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Diagnosis
- Onion Skin Lysosomes
- Pathophysiology
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Diagnosis
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Signs and Symptoms
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
- 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
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid Cells
- Pathophysiology
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Signs and Symptoms
- Demyelination
- Ataxia
- Dementia
- 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
- Pathophysiology
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- Signs and Symptoms
- No Corneal Clouding
- Aggressive Behavior
- Thiamine Deficiency
- Dry Beriberi
- Polyneuritis
- Muscle Wasting
- Wet Beriberi
- Dilated Cardiomyopathy
- Edema
- 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
- 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
- Causes
- Vegans
- Pernicious Anemia
- Gastric Bypass Surgery
- Malabsorption
- Sprue
- Enteritis
- Crohn's Disease
- Diphyllobothrium latum
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