Maple syrup urine disease variant: Report on an infant

Koepp, P; Rybak, C; Rüdiger, H. W.; Wendel, U.

doi:10.1007/bf00464456

Cited by 3 publications

(3 citation statements)

References 20 publications

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“…This pathway is a multi-tissue system driven particularly by the muscle and liver, and consequently it is diagnosed by significant increases of BCAAs and BCKAs in both the serum and urine, a decrease in alanine, and/or by detection of L-alloisoleucine (Chuang and Shih, 2001; Haymond et al, 1978). Genetically engineered mouse models of MSUD have similar phenotypic progression as humans, including the same metabolite buildups and related phenotypes such as movement difficulties and reduced body growth (Koepp et al, 1974; Wu et al, 2004). We thus examined the BXDs with respect to these traits.…”

Section: Resultsmentioning

confidence: 99%

Multilayered Genetic and Omics Dissection of Mitochondrial Activity in a Mouse Reference Population

Williams

Dubuis

et al. 2014

Cell

225

241

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SUMMARY The manner by which genotype and environment affect complex phenotypes is one of the fundamental questions in biology. In this study, we quantified the transcriptome—a subset of the metabolome—and, using targeted proteomics, quantified a subset of the liver proteome from 40 strains of the BXD mouse genetic reference population on two diverse diets. We discovered dozens of transcript, protein, and metabolite QTLs, several of which linked to metabolic phenotypes. Most prominently, Dhtkd1 was identified as a primary regulator of 2-aminoadipate, explaining variance in fasted glucose and diabetes status in both mice and humans. These integrated molecular profiles also allowed further characterization of complex pathways, particularly the mitochondrial unfolded protein response (UPRmt). UPRmt shows strikingly variant responses at the transcript and protein level that are remarkably conserved among C. elegans, mice, and humans. Overall, these examples demonstrate the value of an integrated multilayered omics approach to characterize complex metabolic phenotypes.

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Section: Resultsmentioning

confidence: 99%

Multilayered Genetic and Omics Dissection of Mitochondrial Activity in a Mouse Reference Population

Williams

Dubuis

et al. 2014

Cell

225

241

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“…KG. and SS have been published (6,14,16,28,35). The BCKA decarboxylation assay with fibroblasts in monolayer was performed as described previously (37) with modifications ( I ) to to keep the assay system free of BCAA except for cellular contents, and (2) to obtain a constant pH of 6.9.…”

mentioning

confidence: 99%

Maple Syrup Urine Disease: Analysis of Branched Chain Ketoacid Decarboxylation in Cultured Fibroblasts

Wendel¹,

Wentrup²,

Rüdiger³

1975

Pediatr Res

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“…D u r i n g the n e o n a t a l p e r i o d the disease presents with an acutely d e t e r i o r a t i n g c o u r s e a n d leads to failure to thrive, i n t e r m i t t e n t m u s c u l a r h y p e r t o n i c i t y a n d flaccidity, loss o f the M m : o reflex, seizures, c o m a , a p n o i c spells, a n d death. Besides this "classical" f o r m , o t h e r defects o f the oxidative d e c a r b o x y l a t i o n h a v e b e e n d e s c r i b e d as i n t e r m i t t e n t a n d i n t e r m e d i a t e M S U D in which the e n z y m a t i c activity is n o t t o t a l l y absent a n d the clinical course is n o t so severe [3,4,7,10,11,16,17,28]. A t h i a m i n e -r e s p o n s i v e f o r m has also been o b s e r v e d [24].…”

Section: Introductionmentioning

confidence: 99%

Maple syrup urine disease: Treatment of the acutely ill newborn

Hammersen

Wille²,

Schmidt³

et al. 1978

Eur J Pediatr

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Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.

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Maple syrup urine disease variant: Report on an infant

Cited by 3 publications

References 20 publications

Multilayered Genetic and Omics Dissection of Mitochondrial Activity in a Mouse Reference Population

Multilayered Genetic and Omics Dissection of Mitochondrial Activity in a Mouse Reference Population

Maple Syrup Urine Disease: Analysis of Branched Chain Ketoacid Decarboxylation in Cultured Fibroblasts

Maple syrup urine disease: Treatment of the acutely ill newborn

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