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Physician Assistant (PA)
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Lysosomal Storage Disorders

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Biochemistry | Physician Assistant (PA) School Study Aid

Lysosomal Storage Disorders
9 Picmonics to Learn | 14 mins
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
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1 min
Tay-Sachs Disease
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
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1 min
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
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1 min
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
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2 mins
Fabry's Disease
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
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Gauchers Disease
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
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2 mins
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
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1 min
I-cell Disease (Inclusion Cell Disease)
Pathophysiology
Mucolipidosis II
Autosomal Recessive
Defective N-acetylglucosaminyl-1-phosphotransferase
Absent Mannose-6-Phosphate on Glycoproteins
Accumulation of Lysosomal Debris
Signs & Symptoms
Coarse Facies
Corneal Clouding
Skeletal Abnormalities
Diagnosis
Increased Plasma Lysosomal Enzymes
Inclusion Bodies
Considerations
Poor Prognosis
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3 mins

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