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60 Cards in this Set
- Front
- Back
what is the deficiency in Hurler Syndrome?
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alpha- liduronidase
mneumonic: He HURLed and LIeD! |
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what is the most severe form of MPS I?
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Hurler syndrome
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what are the symptoms of hurler syndrome?
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corneal clouding, mental retardation, dwarfing, coarse facial features, upper airway obstruction
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deposition of dermatan sulate and heparan sulfate in coronary artery lead to what in Hurler's syndrome?
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ischemia and early death
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what type of transplant is needed before 18 months when the patient has Hurler's syndrome?
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bone marrow or cord blood
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what three syndromes affect the degradation of heparan sulfate and dermatan sulfate?
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hurler's, hunter's, and sly
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what is the deficiency in Hunter syndrome?
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iduronate sulfatase
mneumonic: Idurona Hunt! (If you say it funny it kinda sounds like "I donwanna hunt") |
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how is hunter's syndrome genetically passed?
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x-linked
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what are some of the symptoms of hunter's syndrome?
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physical deformity and mental retardation which can from mild to severe
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what is the deficiency in sly syndrome?
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b-glucuronidase deficiency
mneumonic: It's SLY to bait (beta) with GLUe |
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what are the symptoms of sly syndrome?
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hepatosplenomegaly, skeletal deformity, short stature, corneal clouding, mental deficiency
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what are the four deficiencies of each type of san filippo syndrome? (A-D)
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A: heparan sulfamidase
B: N-acetyl glucosaminidase C: glucosamine-N-acetyltransferase D: N-acetylglucosamine-6-sulfatase mneumonics: Has Nummy Guac for Supper (s is the letter that distinguished type D from type B) |
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what are the symptoms of san filippo syndrome?
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severe nervous disorders, mental retardation
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what is the deficiency in I-cell disease?
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ability to phosphorylate mannose
mneumonic: I-C (see) phony man-noses! (like nose jobs? lol) |
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what are the symptoms of I-cell disease?
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skeletal abnormalities, restricted joint movement, coarse facial features, and sever psychomoto impairment
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which disease kills their victim by age 8?
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I-cell disease
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what accumulates in gangliosidosis?
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accumulation of gangliosides (GM1) and keratan sulfate
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what are the symptoms of gangliosidosis?
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neurologic deterioration, hepatosplenomegaly, skeletal deformaties, cherry red macula (spot by fovea)
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what is the deficient enzyme in gangliosidosis?
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B-galactisidase
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what is the deficient enzyme in tay-sachs disease?
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B-hexosamindase A
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what accumulates in tay-sachs disease?
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gangliosides (GM2)
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what are the symptoms of tay-sachs?
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rapid and progressive neurodegeneration, blindness, cherry red macula, muscle weakness and seizures
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what is the deficient enzyme in sandhoff's disease?
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B- hexosaminidase A and B
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what accumulates in sandhoff's disease?
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GM2 and globosides
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what other disease shares the same symptoms as sandhoff's disease?
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tay-sachs
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what is the deficient enzyme in fabry disease?
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alpha galactosidase
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what is the accumulation in fabry disease?
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globosides
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what are the symptoms of fabry disease?
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reddish-purple skin rash, kidney and heart failure, burning pain in lower extremities
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what is the deficient enzyme in gaucher's disease?
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glucocerebrosidase
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what accumulates in gaucher's disease?
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glucocerebrosides
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what are the symptoms of gaucher's disease?
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hepatosplenomegaly, osteoporosis of long bones, CNS involvement in rare infantile and juvenile forms
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what is the most common lysosomal storage disease?
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Gaucher's
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what is the deficient enzyme in Metachromatic leukodystrophy?
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arylsulfatase A
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what accumulates in metachromatic leukodystrophy?
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sulfatides
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what are the symptoms of metchromatic leukodystrophy?
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cognitive deteriration, demyelination, progressive paralysis, dementia in adult form, nerves stain yellowish-brown with cresyl violet
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what is the deficient enzyme in krabbe disease?
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galactocerebrosidase
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what accumulates in krabbe disease?
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galactocerebrosides
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what are the symptoms of krabbe disease?
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mental and motor deterioration, blindness and deafness, near total loss of myelin, globoid bodies in white matter of brain (macrophages)
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what is the deficient enzyme in Classic galactosemia?
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uridyltransferase
mneuomic: U Ride to Class Gallantly |
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how is classic galactosemia genetically passed?
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autosomal recessive
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what accumulates in classic galactosemia?
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galactose 1-p and galacitol
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what are the symptoms of classic galactosemia?
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galactosuria, vomiting, diarrhea, jaundice, liver damage, sever mental retardation and ctaracts
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what in utero test is used to early diagnosis classic galactosemia?
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chorionic villi sampling
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what is the treatment for classic galactosemia?
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rapid removal of lactose from their diet
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what type of inheritance is galactokinase deficiency?
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rare autosomal recessive
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what does galactokinase deficiency cause elevation of?
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galactose in the blood and urine (galactosuria)
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where is aldose reductase located in the body?
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liver, kidner retina, lens, nerve tissues, seminal vesicles, ovaries
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what ailment does elevated galacitol cause?
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cataracts
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what is lacking in essential fructosuria?
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fructokinase
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what is the mode of inheritance for essential fructosuria?
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autosomal recessive
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where does fructose accumulate in essential fructosuria?
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urine
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what is the mode of inheritance of hereditary fructose intolerance?
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autosomal recessive
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what enzyme is absent in hereditary fructose intolerance? what does the absent enzyme cause (besides hereditary fructose intolerance)?
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aldolase B; intracellular trapping of fructose 1-p and low ATP
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what are the symptoms of hereditary fructose intolerance?
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sever hypoglycemia, vomiting, jaundine, hemorrhage, hepatomegaly, lacticacidemia hyperuricemia, hepatic failure and death
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what is the therapy that can be done on patients with hereditary fructose intolerance?
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rapid detection and removal of fructose and sucrose from the diet
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what does hyperglycemia cause? (especially in the lens, retina, nerve and kidney cells)
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excess in sorbitol
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why is there swelling associated with uncontrolled diabetes?
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accumulation of sorbitol attracts lots of water which leads to complications
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what are the complications of uncontrolled diabetes?
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cataracts, retinopathy, nephropathy and peripheral neuropathy
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what results as a result of carbohydrate sulfotransferase 6 deficiency?
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macular cornal dystrophy
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what is undersulfated in carbohydrate sulfotransferase 6 deficiency?
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keratan sulfate
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