Enzyme Sample List

Catalog ID	Description	Percent Normal Activity	Specimen Assayed	Remark
GM00016	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA			According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00022	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA			According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00296	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA	2-5		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00297	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA	1		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00612	MAPLE SYRUP URINE DISEASE (MSUD), TYPE II	<2		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00649	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA			According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00650	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA	30-60		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM00651	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA	30-60		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM01364	MAPLE SYRUP URINE DISEASE (MSUD), TYPE II		lymphoblasts	Indo et al (J Clin Invest 80:63-70 1987) reported that lymphoblasts from this patient had BCKDH enzyme activity which showed hyperbolic kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed an absence of E2 (dihydrolipoyl transacylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A and E1B (branched-chain alpha-keto acid decarboxylase) and the E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide.
GM01366	MAPLE SYRUP URINE DISEASE (MSUD), TYPE II		lymphoblasts	Indo et al (J Clin Invest 80:63-70 1987) reported that lymphoblasts from this patient had BCKDH enzyme activity which showed hyperbolic kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed an absence of E2 (dihydrolipoyl transacylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A and E1B (branched-chain alpha-keto acid decarboxylase) and the E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide. Fisher et al (J Biol Chem 264:3448-3453 1989) reported that this cell culture has a type IV molecular phenotype for MSUD. Type IVs show markedly reduced E2 mRNA and E2 subunits. The authors measured the mRNA and subunit contents of the branched-chain a-keto acid dehydrogenase complex in normal and GM01366 lymphoblasts. They observed that the content of E2 mRNA is markedly lower in GM01366 lymphoblasts than in normal cells whereas the level of E1A mRNA appears to be normal in GM01366 cells. The reduced E2 mRNA level is consistent with the absence of E2 subunit in GM01366 lymphoblasts. The E1A subunit is present in normal abundance in GM01366 lymphoblasts. Litwer et al (J Biol Chem 264:14597-14600 1989) used an RNase protection assay to show the absence of transcripts for preE2b mRNA when compared with transcripts in cells with wildtype BCKD activity.
GM01654	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA		lymphoblasts	Indo et al (J Clin Invest 80:63-70 1987) reported that lymphoblasts from this patient had BCKDH enzyme activity which showed sigmoidal or near sigmoidal kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed a markedly decreased amount of the E1B (branched-chain alpha-keto acid decarboxylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A subunit gave a weakly positive reaction and the E2 (dihydrolipoyl transacylase) and E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide.
GM01655	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA		lymphoblasts	Indo et al (J Clin Invest 80:63-70 1987) reported that lymphoblasts from this patient had BCKDH enzyme activity which showed sigmoidal or near sigmoidal kinetics for overall activity which was reduced from normal activity. Both fibroblasts and lymphoblasts showed a markedly decreased amount of the E1B (branched-chain alpha-keto acid decarboxylase) protein component of the BCKDH complex using an immunoblot analysis. The E1A subunit gave a weakly positive reaction and the E2 (dihydrolipoyl transacylase) and E3 (dihydrolipoyl dehydrogenase) proteins exhibited cross-reactive peptide. Fisher et al (Am J Hum Genet 49:429-434 1991) reported that cDNA from this maple syrup urine disease patient showed a mutation at codon 393 of the mature E1 alpha polypeptide consisting of a base substitution changing a tyrosine (encoded by TAC) to an asparagine residue (encoded by AAC) which is designated Y393N. The patient was found to be homozygous for the mutation.
GM01744	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA			According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM01938	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA			According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM02327	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA			According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM11381	MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA	0	fibroblasts	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.