Thiamin-Responsive Maple Syrup Urine Disease in a Patient Antigenically Missing Dihydrolipoamide Acyltransferase

Ellerine, N.P.; Herring, W J; Elsas, Louis J.; McKean, Martha C.; Klein, Petr; Danner, Dean J.

doi:10.1006/bmmb.1993.1037

Cited by 19 publications

(8 citation statements)

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“…Indeed E2 -cells show full expression of the E1subunits by western blot analysis (85). What has emerged is that the socalled "thiamin-responsive" MSUD patient is strongly associated with the E2 -phenotype (86). These findings suggest that E1, in the presence of pharmacologic excess of TPP, can decarboxylate sufficient amounts of the potentially toxic ketoacids to minimize the dire consequences.…”

Section: Lessons Learned From Functional Analysis Of Msud Mutationsmentioning

confidence: 99%

Human mutations affecting branched chain a-ketoacid dehydrogenase

Danner

Doering²

1998

Front Biosci

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Section: Lessons Learned From Functional Analysis Of Msud Mutationsmentioning

confidence: 99%

Human mutations affecting branched chain a-ketoacid dehydrogenase

Danner

Doering²

1998

Front Biosci

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“…It was therefore serendipitous when we found that the E2 subunit in the cell extract from Scriver's thiamine-responsive patient WG-34 was much reduced compared to the control samples. 30 This patient is compound-heterozygous for the K278K and the 15-20-kb deletion alleles. This was confirmed by a report that showed that the cDNA sequence of the E1α unit of WG-34 were normal.…”

Section: The Thiamine-responsive Phenotype Is Linked To the Presence mentioning

confidence: 98%

“…This was confirmed by a report that showed that the cDNA sequence of the E1α unit of WG-34 were normal. 30 Both patients were found to carry E2 mutations: one is compound-heterozygous for the P73R and G292R substitutions and the other carries a R223G substitution and the IVSdel[-3.2 kb:-14] deletion. 29 The 3.2-kb intronic deletion resulted in a null E2 mRNA containing a 17-bp frameshift insertion.…”

Section: The Thiamine-responsive Phenotype Is Linked To the Presence mentioning

confidence: 99%

Maple Syrup Urine Disease

Chuang¹,

Wynn²,

Cox³

et al. 2015

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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“…Response to therapeutic intervention and genotype–phenotype correlations were assessed in children with thiamine responsive maple syrup urine disease34 and galactosaemia, respectively 30…”

Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

Uses of stable isotopes in clinical diagnosis and research in the paediatric population

Bodamer

2001

Archives of Disease in Childhood

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The landmark experiments of Schoenheimer and Rittenberg in the 1930s provided the scientific foundation for the ensuing development and application of stable isotope techniques in clinical diagnosis and research. Following intravascular or oral administration, the tracer is metabolically indistinguishable from the equivalent unlabelled compound of interest (tracee). The metabolic fate of the compound can be assessed qualitatively and quantitatively by measuring the relative abundance of tracer and tracee and/or their respective metabolites with time. The detectable mass diVerence of tracer and tracee allows the analysis of compounds, extracted from plasma, by gas chromatography-mass spectrometry (GC-MS, picogram sample size, analytical range 0.1-100 mole %, precision ±0.2 mole %). 5The detection limit is considerably less than 0.1 mole %, when tracers with multiple stable isotope labels (for example ring-D 5 phenylalanine) are used.6 Stable isotopes in breath ( 12 CO 2 and 13 CO 2 ) are analysed using an isotope ratio mass spectrometer (IRMS, microgram sample size, analytical range 0.0001-0.01 atom % excess, precision ±0.0001 atom %. Combustion IRMS has essentially the same analytical capabilities as IRMS but allows the combustion of tissue samples with subsequent analysis of gaseous isotope enrichment. 4 Stable isotopes of minerals are typically analysed by thermal ionisation mass spectrometry (TIMS) or inductively coupled plasma mass spectrometry (ICP-MS) with high precision and sensitivity.

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Thiamin-Responsive Maple Syrup Urine Disease in a Patient Antigenically Missing Dihydrolipoamide Acyltransferase

Cited by 19 publications

References 0 publications

Human mutations affecting branched chain a-ketoacid dehydrogenase

Human mutations affecting branched chain a-ketoacid dehydrogenase

Maple Syrup Urine Disease

Uses of stable isotopes in clinical diagnosis and research in the paediatric population

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