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Metabolic Disorders, Metabolic Disorders USUALLY AUTO RECESSIVE III. Vit-Dependency Dzs Biotinidase Deficiency -can't detach Biotin from enzymes (cov. bound) ->decreased recycling ->need more biotin, Metabolic Disorders USUALLY AUTO RECESSIVE I. Accumulation Phenylketonuria (PKU) lack F hydroxylase ->can't make Y from F ACCUMULATE PHE -microcephaly, mental ret. -needs immed. treatment diet-low protein, low F -provide tyrosine, Lysosomal Storage diseases lysosomes-intracel digestion, pH~5 -enzymes for all biomolecs. -mucopolysaccharides-accum GAGs Hurler, Hunter syns -sphingolipidoses Tay-Sachs, Gaucher, other gang'sides -glycogen accum Pompe Dz -I-cell dz -lack multiple lysosomal enzymes -defect in M6P lysosome targeting ???? Tay Sachs -def. in b-hexosaminidase A -can't hydrolyze ganglioside GM2 -infant devel. retardation, blindness, paralysis, dementia -death in 2nd/3rd year -can be screened and prevented, Metabolic Disorders USUALLY AUTO RECESSIVE II. Inad. Synth Melanism- lack tyrosinase ->no Melanin from Y INADEQUATE mel. synth locus heterogeneity -no pigment, Metabolic Disorders USUALLY AUTO RECESSIVE ???? Inborn errors in metabolism, Metabolic Disorders USUALLY AUTO RECESSIVE II. Inad. Synth Smith-Lemli-Opitz (SLO) Syn. microcephaly, syndactyly mental ret., organs malform -not enough 7-dehydrocholesterol reductase->lots of 7-DHC -INADEQUATE cholesterol synth for hedgehog proteins in embryo, Lysosomal Storage diseases lysosomes-intracel digestion, pH~5 -enzymes for all biomolecs. -mucopolysaccharides-accum GAGs Hurler, Hunter syns -sphingolipidoses Tay-Sachs, Gaucher, other gang'sides -glycogen accum Pompe Dz -I-cell dz -lack multiple lysosomal enzymes -defect in M6P lysosome targeting ???? Gaucher- MOST PREVALENT STORAGE DZ -def. in b-glucosidase -can't break oligosaccs -hepatosplenomegaly -anemia, thrombocytopenia due to bone marrow -enzyme replacement therapy, Metabolic Disorders USUALLY AUTO RECESSIVE III. Vit-Dependency Dzs Enzyme w/ low aff for cofactor/coenz increased vitamin reqs eg-cystathionine synthase deficit -need high pyridoxal phosphate -buildup of homocystinuria ⇓ with large Vit B6 doses (pyridoxamine), Metabolic Disorders USUALLY AUTO RECESSIVE VII. Storage Disorders X-linked Adrenoleukodystrophy -peroxisomes-single membrane-bound -ADL gene encodes perox. memb. protein to xport long-chain fatty acyl CoA synthase -peroxisomes can't ox. VLC fatty acids -very long chain fatty acids build up ->cell damage, esp. neurons -Lorenzo's Oil a treament?, Inborn errors in metabolism ???? result from mutations in genes for enzymes