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metabolic disorder
| Question | Answer |
|---|---|
| What are 2 autosomal dominant metabolic disorder we need to know | NF1, Marfan’s |
| What are autosomal recessive metabolic disorder we need to know | (11) 1.PKU, 2.Galactosemia, 3.von Gierke disease, 4.McArdle disease, 5.Tay-Sachs, 6.Pompe type2, 7.Gaucher, 8.Metachromatic leukodystrophy, 9.MPS1 (Hurler), 10.MPS II (hunter), 11.MCAD defect |
| What are sex linked metabolic disorder we need to know | (2) 1.Lesch-Nyhan, 2.Ornithine transcarbamylase deficiency |
| Neurofibromatosis I is also called | Von Recklinghausen disease |
| What gene (and its location) is related to NF-1 | (+function) Neurofibromin: 17q11.2, it is a tumor suppressor gene |
| Frequency of NF-1 | 1 in 3000 |
| 3 medical features of NF-1 | 1.multiple neural tumors (neurofibrommas), 2.pigmented skin lesions (café au lait), 3.Lisch nodules (hamartomas in the iris) |
| Main tissue affected by Marfan’s | (+ gene +protein + 2assoc. proteins) Connective tissue, FBN1 gene makes fibrillin need to make microfibrillary fibers to make tropoelastin |
| Frequency of marfan’s | 1 in 20,000 |
| 3 feautres of marfan’s | 1.skeletal changes, 2.ocular changes (ectopia lentis), 3.mitral valve prolapsed, 4.cystic medionecrosis |
| What are the 2 glycogen storage diseases | (+frequency) 1.von gierke, 2.mcardle, 1 in 50,000 |
| What is von Gierke disease | (where, what, main problem) Hepatic problem, deficiency in Glucose-6-Phosphate thus you can’t use your glycogen |
| What are the problems assoc. with von Gierke | (5) 1.accumulation of glycogen, 2.hypoglycemia, 3.hepatomegaly, 4.hyperlipidemia, 5.hyperuricemia |
| What is McArdle disease | (where, what) Myopathy: deficiency in muscle phosphorylase (can’t breakdown glycogen in muscles) |
| What are the problems assoc. with McArdle disease | 1.muscle cramping, 2.failure to raise lactate during exercise, 3.hyperuricemia, 4.myoglobinuria |
| what are the lysosomal storage diseases | (lead to accumulation of products) 1.Tay-sachs, 2.Pompe type 2, 3.Gaucher, 4.Metachromatic leukodystrophy, 5.MPS1 (Hurler), 5.MPS II (hunter) |
| What 2 things can Tay-sachs also be called | 1.Sphingolipidoses, 2.GM2 gangliosidosis |
| what is missing in Tay-sach Which leads to | Hexosaminidase A (alpha subunit), this leads to the accumulation of GM2 gangloside |
| How is Tay-sachs dx | Serum level of hexosaminidase A, or pre-birth or carrier study on parents |
| Who gets Tay-sachs | 1 in 30 ashkenazic jews |
| Medical features of Tay-sachs | (2) 1.motor retard, 2.mental retard |
| Life expectancy in tay-sachs | 2/3 years |
| What 2 chromosomal abnormalities can lead to Tay-sachs | (genetic terms) 1.splice site mutation, 2.frameshift mutation |
| What is seen on patho of tay-sachs | Large lysosomes with gangliosides |
| What is a physical feature of tay-sachs | Cherry-red spot in macula of eye grounds |
| What can pompe type 2 disease also be called | Glycogenosis |
| What is missing in pompe type 2 | (what does that lead to) Alpha 1,4 glucosidase, which leads to accumulation of glycogen |
| How is pompe type 2 Dxed | Enzyme assay in cultured skin fibroblasts |
| Medical features of pompe type 2 | (which one leads to death, at what time) 1.cardiomegaly, 2.hepatomegaly, 3.hypotonia, 4.cardiorespiratory arrest w/in 2 years |
| what is the most common LSD | Gaucher |
| what is missing in gaucher What cells are affected | Glucocerebrosidase in mononuclear phagocytic cells (monocytes) from the marrow |
| How is gaucher dx | (2) 1.enzyme assayed in WBC, 2.Cultured skin fibroblasts |
| What are the 3 types of gaucher disease | (+characteristics of each) 1.Type1 in adults: splenomegaly, bone involvement, 2.Type2 in infants: early death, 3.Type3 in teens: CNS dysfunction, convulsion, progressive mental deterioration |
| What are the 3 Tx of gaucher | 1.recombinant enzyme, 2.bone marrow transplant, 3.gene tx |
| What are the two sulfatidoses | 1.Gaucher, 2.Metachromatic leukodystrophy |
| What is missing in Metachromatic leukodystrophy | (what accymulates) Arylsulfatase A deficiency, thus sulfatides accumulate |
| how is Metachromatic leukodystrophy dx | (2) 1.enzymes in WBC, 2.cultures skin fibroblasts |
| How are Metachromatic leukodystrophy types divided | Age of onset |
| Childhood onset of Metachromatic leukodystrophy is linked with | (2) 1.motor Sx, 2.death in 5 to 10 years |
| Why is Metachromatic leukodystrophy called this way | Sulfatides bind very strongly to dies |
| What are sulfatides found in Metachromatic leukodystrophy | (3) 1.white matter, 2.peripheral nerves, 3.urine |
| What is a common patho of Metachromatic leukodystrophy | 1.demyelination with gliosis |
| What is a possible tx for Metachromatic leukodystrophy | Bone marrow transplant |
| MPS I, and MPS II are due to accumulation of ______________ called _____________ | Glycosaminoglycans called mucopolysaccharidoses |
| What is missing in MPS 1, what 2 things accumulate | Missing: alpha-L-iduronidase, Accumulate:heparin, dermatan sulfate |
| How is MPS 1 dx | (2) White blood cells, cultured skin fibroblasts |
| What is different about MP1 and MPS2 | MPS-2 has x-linked inheritance and no corneal clouding (also milder) |
| Features of MPS 1 and 2 | (include onset) 1.onset 6-8m, 2.grotesque appearance, 3.skeletal deformities, 4.corneal clouding, 5.mental retard, 6.valvular lesions, 7.coronary a. lesions, 8.joint stiffness, 9.umbilical hernia, 10.hepatosplenomegaly |
| What is most common disorder of energy metabolism | 1.medium chain acyl CoA dehydrogenase (MCAD) |
| What size carbon chain cannot be processed in MCAD | C6 to C10 |
| What can MCAD patients not do | (enzymatically) Beta-oxidize |
| When do MCAD experience problems | When they fast |
| What is abnormal in MCAD plasma | (2) Accumulation of medium chain monocarboxylic fatty acids, and acylcarnitines in plasma |
| What is abnormal in MCAD urine | (2) 1.organic acids, 2.acylglycines |
| How is MCAD confirm | 1.decreased MCAD activity in fibroblasts, 2.genetic testing (mutations in ACADM gene) |
| Two tx for MCAD | 1.IV glucose, 2.avoid fasting |
| what are 2 sex linked disorders | (which one is dominant) 1.Lesh-Nyhan syndrome, 2.Ornithine transcarbamylase deficiency |
| What pathway and enzyme are defective in Lesh-Nyhan | Pathway: purine synthesis, Enzyme: hypoxanthine-guanine phosphoribosyl transferase |
| what are the 3~4 features of Lesch-Nyhan | 1.mental retard, 2.self-mutilative behavior, 3.overproduction of uric acid: (gout, kidney stones) |
| Main lab of OTC deficiency | (1) + (6 more) Main:1.hyperammonia, Others:2.high oritic acid, 3.high urea, 4.high glutamine, 5.high alanine, 6.low arginine, 7.low citrulline. |
| Cx of OTC deficiency | (1~3) Encephalopathy, coma, death |
| Who gets OTC worst | Male, this ix X-dominant (remember than in girls there is X inactivation) |
| How is OTC confirmed | (2) 1.Liver biopsy and test of OTC defiency, 2.Genetic test (many possible) |
| How is OTC txed | (4) 1.Hemodialysis, 2.IV sodium benzoate/phenylbutyrate, 3.liver transplant, 4.arginine/citrulline |
Created by:
mcafej02
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