πBIOCHEM PEALS COMPLETE Flashcards
Inability to repair mismatch strand
Hereditary nonpolyposis colon
Inability to repair thymine dimers
Xeroderma pigmentosum
Triple repeat expansion
Huntington disease
Caloric deprivation is relatively greater than the reduction in protein
Marasmus
Alcohol leads to fat accumulation in the liver
Fatty liver
Cerebrohepatorenal syndrome due to absence of peroxisomes
Zellweger Syndrome
Defect in peroxisomal activation of VLCFA leads to accumulation of VLCFA in the blood and tissues
X-linked adrenoleukodystrophy
Accumulation of phytanic acid
Refsumβs disease
Hypoglcin from unripe fruit of the akee tree inactivates medium and short chain actylCoA dehydrogenase
Jamaican vomiting sickness
Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas
Type I hyperglyceridemia
Genetic absence of lipoprotein lipase
Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease
Type II Hypercholesterolemia
LDL receptor deficiency
Accumulation of fat in intestinal enterocytes and hepatocytes, with deficiency in fat-soluble vitamins and essential fatty acids
Abetalipoproteinemia
Failure to thrive, salt-wasting, hypoglycemia, ambiguous genitalia
CAH
Mental retardation, cherry red spot on macula, lysosomes with onion skin (but no heoatosplenomegaly) from accumulation of GM2 ganglioside
Tay-Sachs Disease
Mental retardation, aseptic necrosis of femur, enlarged liver and spleen from accumulation of glucosylceramide
Gaucherβs 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 acid urea
Sickle cell disease
Point mutation
Protein deprivation that is relative greater than the reduction in total calories
Kwashiorkor
Photosensitivity, chronic inflammation to overt blistering and shearing in exposed areas of the skin due to defects in heme synthesis
Porphyrias
Mental retardation from blocked degradation of branched-chain amino acids
MSVD