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14 Cards in this Set
- Front
- Back
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glycolipidosis/sphingolipidosis
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1. Nieman pick type A
2. Tay Sachs 3. GM1 Gangliosidosis 4. metachromatic leukodystrophy 5. alpha-mannosidosis 6. gaucher dz |
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Niemann- Pick Type A
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1. dev regression and neuro problems starting infancy
2. cherry red macula 3. hepatosplenomegaly 4. Dx: foam cells, sphingomyelinase assay |
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GM2 gangliosidosis
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1. tay sachs - hexosaminidase A def
2. present any age, usually 3-5 months 3. hypotonia, exaggerated startle to noise, cherry red macula 4. rapid decline (blindness, deafness, decerebrate) |
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GM1 gangliosidosis
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1. very similar tay sachs
2. cherry red macula 3. neonatal presentation w/yhypotonia, ascites |
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metachromatic leukodystrophy
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1. rapid dev regression in late infancy
2. lysosomal accumulation sulfatide |
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alpha-mannosidosis
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1. glycoprotein degredation d/o
2. similar mucopolysaccharidosis 3. test urin polysaccharides, glycoproteins, enzyme assays |
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gaucher dz
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1. hepatosplenomegaly
2 tx: ERT, BMT` |
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lysosomal storage dz Dx
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1. most important presentation dev. regression
2. skeletal survey dysostosis multiplex 3. ophthalmology evaluation, urine mucopolysaccharides, urine oligosaccharides 4. enzyme assay (urine test has FN and FP) 5. DNA testing |
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Peroxisomal d/o
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1. elevated VLCFA
2. elevated phytanic and pristanic acid 3. elevated bile acid intermediates and pipecolic acid 4. decreased lysine catabolism 5. decreased plasmalogens - hypotonia, poor feeding, poor growthj - Dx: peroxisomal biogenesis d/o (zellweger spectrum) |
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peroxisomal dz
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1. elevated VLCFA
2. elevated phytanic and pristanic acid 3. elevated bile acid intermediates 4. normal plasmalogens and pipecolic acid - severe hypotonia at birht, no subsequent dev. - Dx: D-bifunctional protein deficience |
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peroxisomal d/o screening
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1. VLCFA in blood
2. screen phytanic acid, plasmalogens, bile acid intermediates, and pipecolic acid - (VLCFA in blood and neuro problems = peroxisomal d/o) |
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Mitochondrial genome D/o
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1. maternal inheritance
2. heteroplasmy - mtDNA and nucDNA 3. replicative segregation |
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Leigh Syndrome
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1. mitochondrial d/o w/ataxia and poor growth
2. mut in both copies of SURF 1 gene which encodes complex IV assemblyl 3. AR because mut in nuclear encode gene - not maternally inherited 4. Dx via MRI |
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smith-lemli-opitz syndrome
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1. low 7-dehydrocholesterol reductase
2. low cholesterol, elevated 7-dehydrocholesterol, poor feeding, pyloric stenosis 3. syndactyly, polydactyly, extra digits 4. cleft palate, heart defect, ambiguous genitals, MR |
