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metabolic disorder

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