Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids

1980 ◽  
Vol 134 (1) ◽  
pp. 57-63 ◽  
Author(s):  
U. Wendel ◽  
K. Becker ◽  
Hildegard Przyrembel ◽  
Monika Bulla ◽  
C. Manegold ◽  
...  
Keyword(s):  
Peritoneal Dialysis ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Keto Acids ◽  
Urine Disease ◽  
Branched Chain

Nasogastric Drip Feeding as the Only Treatment of Neonatal Maple Syrup Urine Disease

PEDIATRICS ◽  
1993 ◽  
Vol 92 (2) ◽  
pp. 280-283
Author(s):  
ROSSELLA PARINI ◽  
LUCIA PICENI SERENI ◽  
DONATA CLERICI BAGOZZI ◽  
CARLO CORBETTA ◽  
DANIEL RABIER ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Single Case ◽  
Case Reports ◽  
Metabolic Decompensation ◽  
Maple Syrup ◽  
Keto Acids ◽  
Blood Exchange ◽  
Life Threatening ◽  
Urine Disease ◽  
Branched Chain

The ideal management for severe metabolic decompensation in maple syrup urine disease (MSUD) is still debated. Most papers published in the past 20 years suggest the use of extracorporeal techniques combined with adequate caloric intake1-5 As renal clearance is poor,6 repeated and prolonged blood exchange transfusions (ETs), peritoneal dialysis, and hemodialysis have proved useful in removing branched-chain amino and keto acids (BCAAs, BCKAs) from plasma.3,7,8 However, single case reports have described good results in patients given nutritional treatment alone,9-11 and recently it has been suggested that extracorporeal techniques should be used only in selected cases, when diagnosis is made after 8 to 10 days of life and the condition is presumably life-threatening.12,13

Branched-Chain α-Keto Acids Accumulating in Maple Syrup Urine Disease Induce Reorganization of Phosphorylated GFAP in C6-Glioma Cells

2005 ◽  
Vol 20 (3) ◽  
pp. 205-217 ◽  
Author(s):  
Cláudia Funchal ◽  
André Quincozes dos Santos ◽  
Maria Caroline Jacques-Silva ◽  
Ariane Zamoner ◽  
Carmem Gottfried ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Glioma Cells ◽  
C6 Glioma ◽  
C6 Glioma Cells ◽  
Maple Syrup ◽  
Keto Acids ◽  
Urine Disease ◽  
Branched Chain

Effect of the branched-chain α-keto acids accumulating in maple syrup urine disease on S100B release from glial cells

2007 ◽  
Vol 260 (1-2) ◽  
pp. 87-94 ◽  
Author(s):  
Cláudia Funchal ◽  
Francine Tramontina ◽  
André Quincozes dos Santos ◽  
Daniela Fraga de Souza ◽  
Carlos Alberto Gonçalves ◽  
...  
Keyword(s):  
Glial Cells ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Keto Acids ◽  
Urine Disease ◽  
Branched Chain

Morphological alterations and induction of oxidative stress in glial cells caused by the branched-chain α-keto acids accumulating in maple syrup urine disease

2006 ◽  
Vol 49 (7) ◽  
pp. 640-650 ◽  
Author(s):  
Cláudia Funchal ◽  
Alexandra Latini ◽  
Maria Caroline Jacques-Silva ◽  
André Quincozes dos Santos ◽  
Luciane Buzin ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Glial Cells ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Morphological Alterations ◽  
Keto Acids ◽  
Urine Disease ◽  
Branched Chain

Correlations between branched-chain amino acids and branched-chain α-keto acids in blood in maple syrup urine disease

1978 ◽  
Vol 88 (2) ◽  
pp. 283-291 ◽  
Author(s):  
U. Langenbeck ◽  
U. Wendel ◽  
Angelika Mench-Hoinowski ◽  
D. Kuschel ◽  
K. Becker ◽  
...  
Keyword(s):  
Amino Acids ◽  
Maple Syrup Urine Disease ◽  
Branched Chain Amino Acids ◽  
Maple Syrup ◽  
Keto Acids ◽  
Urine Disease ◽  
Branched Chain

MAPLE SYRUP URINE DISEASE: BRANCHED-CHAIN KETO-ACIDURIA

PEDIATRICS ◽  
1960 ◽  
Vol 25 (1) ◽  
pp. 72-79
Author(s):  
Joseph Dancis ◽  
Mortimer Levitz ◽  
Roland G. Westall
Keyword(s):  
Amino Acids ◽  
Maple Syrup Urine Disease ◽  
Animal Experiments ◽  
Oxidative Decarboxylation ◽  
Maple Syrup ◽  
Keto Acids ◽  
Metabolic Degradation ◽  
Urine Disease ◽  
Branched Chain ◽  
Derivatives Of

A case of maple syrup urine disease is presented. The patient lived for 20 months, the longest survival so far reported. There were increased amounts of leucine, isoleucine and valine in plasma and urine, indicating a block in the metabolic degradation of these amino acids. There was an accumulation in the urine of the respective keto acids, but not of the aldehydes or of the simple acids. This locates the block at a step common to all three amino acids, that of oxidative-decarboxylation. The alpha-hydroxy-acid derivatives of these amino acids are probably present, but the evidence is still incomplete. Animal experiments indicate that oxidative decarboxylation of the branched-chain amino acids is a metabolic step which is found generally in tissues, including leukocytes but probably not erythrocytes.

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