faye Shared "lysosomal & glycogen storage diseases" - 5 Picmonics
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lysosomal & glycogen storage diseases
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
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
2 mins
Pompe Disease
- Pathophysiology
- Type II Glycogen Storage Disease
- Autosomal Recessive
- Deficiency of Lysosomal Alpha 1,4 Glucosidase
- Acid Maltase
- Signs and Symptoms
- Hypertrophic Cardiomyopathy
- Hepatomegaly
- Macroglossia
- Hypotonia
- Diagnosis
- Increased Glycogen within Lysosomes
- Increased Lactate Dehydrogenase (LDH)
- Increased Creatine Kinase (CK/CPK)
2 mins
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
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
