DISEASES Flashcards
Mental retardation
Aseptic necrosis of femur
Enlarged liver and spleen from accumulation of glucosylceramide
Gaucher’s Disease
Mental retardation
Enlarged liver and spleen
Cherry red spot on macula
Foam cells from accumulation of sphingomyelin
Niemann Pick Disease
Acute arthritis with deposition of uric acid crystals
Gout
Gout and self-mutilation
Lesch Nyhan Syndrome (HGPRT Deficiency)
Severe combined immunodeficiency
ADA
Abnormal growth
Megaloblastic anemia
Orotate in urine
Orotic aciduria
Mental retardation
Cherry red spot on macula
Lysosomes with union skin (but no hepatosplenomegaly) from accumukation of GM2 ganglioside
Tay Sacha Disease
Failure to thrive
Saltwasting
Hypoglycemia
Ambigous genitalia
CAH
Accumulation of fat in intestinal enterocytes and hepatocytes and hepatocytes, with deficiency in fat-soluble vitamins and essential fatty acids
Abetalipoproteinemia
Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease
Type II Hypercholesterolemia (LDL Receptor Deficiency)
Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas
Type I Hypertriglyceridemia
Genetic absence of lipoprotein lipase
Hypoglycin from unripe fruit of akee tree inactivates medium and short-chain acyl CoA dehydrogenase
Jamaican Vomiting Sickness
Accumulation of phytanic acid
Refsum’s Disease
Defect in peroxisomal activation of VLCFA leads to accumulation of VLCFA in the blood and tissues
X-Linked Adrenoleukodystrophy
Cerebrohepatorenal syndrome due to absence of peroxisomes
Zellweger Syndrome
