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27 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Xeroderma pigmentosum
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Dry skin
Malignant melanoma |
UV-specific endonuclease
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Fructose intolerance
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Hypoglycemia
Jaundice Cirrhosis |
Aldolase B
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Essential fructosuria
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Fructosemia
Fructosuria |
Fructokinase
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Galactosemia
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Cataracts
Hepatosplenomegaly Mental retardation |
Galactosemia
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Lactose intolerance
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Bloating
Flatulence Diarrhea Associated with diary |
Lactase
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PDH deficiency
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Lactic acidosis
Neurologic deficits in alcoholic |
PDH
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von Gierke's disease
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Hepatocellular accumulation of glycogen associated with severe fasting
Hypoglycemia Impaired fructose metabolism |
Glucose 6-phosphatase
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Pompe's disease
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Accumulation of glycogen in heart, liver, and muscle
Cardiomegaly |
Lysosomal alpha-1,4-glucosidase
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Cori's disease
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Accumulation of glycogen in liver and heart
Muscle hypotonia |
alpha-1,6-glucosidase,
Debranching enzyme |
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McArdle's disease
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Accumulation of glycogen in skeletal muscle fibers
Myalgia and myoglobinuria with exercise |
Glycogen phosphorylase
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Homocystinuria
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Homocysteine in urine
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Cystathione synthase
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Cystinuria
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Cysteine, ornithine, lysine, and arginine in urine
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Renal tubular amino acid transporter
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Maple syrup urine disease
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Mental retardation
Sweet smelling urine |
alpha ketoacid dehydrogenase
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PKU
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Mental retardation
Hypopigmentation Eczema Mousy odor |
Phenylalanine hydroxylase
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Alkaptonuria
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Darkening of urine and connective tissues
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Homogentisic acid oxidase
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ADA deficiency
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Severe combined immunodeficiency
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ADA
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Lesch-Nyhan syndrome
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Hyperuricemia
Neurologic defects Behavioral abnormalities Self-mutilation |
HGPRT
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Fabry's disease
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Increased ceramide trihexose
Pain in extremities Ocular abnormalities Renal failure |
alpha-galactosidase A
XL-recessive |
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Krabbe's disease
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Cerebral accumulation of galactocerebroside
Progressive neurologic degeneration Optic atrophy Globoid cells |
Galactosylceramide beta-galactosidase
AR inheritance |
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Gaucher disease
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Hepatosplenomegaly
Gaucher macrophages Bone crises Neurologic dysfunction Accumulation of glucocerebroside in brain, bone marrow, spleen, liver |
beta-glucocerebrosidase
AR inheritance |
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Niemann-Pick disease
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Hepatosplenomegaly
Progressive neurodegeneration Cherry-red spots on macula Foam cells |
Sphingomyelinase deficiency
AR inheritnace |
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Tay-Sachs disease
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Progressive neurodegeneration
Chery red spots on macula Onion-skinned lysosomes NO hepatosplenomegaly Accumulation of GM2 |
Hexosaminidase A deficiency
AR inheritance |
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Metachromatic leukodystrophy
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Ataxia
Central and peripheral demyelination Accumulation of sulfated glycolipids |
Arylsulfatase A deficiency
AR inheritance |
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Hunter's syndrome
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Mental retardation
Coarse facial features Short stature NO corneal clouding |
Iduronate sulfatase deficiency
XLR inheritance |
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Hurler's syndrome
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Developmental delay
Gargoylism Hepatosplenomegaly Corneal clouding Skeletal abnormalities |
Alpha-L-iduronidase deficiency
AR inheritance |
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I cell disease
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Developmental delay
Coarse facial features Corneal clouding |
Defective trafficking via mannose 6-phosphorylation
Deficiency of UDP-N-acetylglucosamine:N-acetylglucosaminyl-L-phosphotransferase AR inheritance |
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X-linked enzyme deficiencies
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Fabry's disease
Hunter's syndrome |
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