Read by QxMD icon Read

acute decompensation of maple syrup urine disease

Francesco Porta, Licia Peruzzi, Roberto Bonaudo, Silvia Pieretti, Marta Busso, Enrico Cocchi, Alessandra Conio, Veronica Pagliardini, Marco Spada
Severe urea cycle defects (UCDs), organic acidemias (OAs), and maple syrup urine disease (MSUD) are life-threatening disorders presenting in the first days of life. Renal replacement therapy (RRT) is an emergency option in affected newborns, mostly performed as ultima ratio. We report our 10-year experience using emergency RRT in newborns with UCDs, OAs, and MSUD. Twelve newborns (8 with UCDs, 2 with methylmalonic acidemia, and 2 with MSUD) underwent emergency RRT. The overall survival rate to RRT was 58.3%...
June 10, 2018: Nephrology
Aisha Al-Shamsi, Alastair Baker, Anil Dhawan, Jozef Hertecant
Maple syrup urine disease (MSUD) is an autosomal recessive disorder associated with impaired metabolism of branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Children with MSUD suffer from bouts of metabolic decompensation, which may lead to neurological damage. Liver transplantation from unrelated deceased donors has been considered curative. The natural history of the disease following transplantation using a haploidentical (obligate heterozygous) living donor is still unclear, although previously described as favorable...
2016: JIMD Reports
Demet Demirkol, Güntülü Şık, Nilüfer Topal, Agop Çıtak, Çigdem Zeybek, Abdülhamit Tüten, Ilmay Bilge
BACKGROUND: The study aims to define the efficacy of continuous renal replacement therapy in acute metabolic decompensation treatment of maple syrup urine disease (MSUD). METHODS: All the neonates, infants and children who have had life threatening conditions due to MSUD and were treated with continuous venovenous hemodiafiltration (CVVHDF) were analyzed retrospectively. RESULTS: Fourteen patients underwent 15 sessions of CVVHDF (age range 15 days to 87 months, mean 40...
2016: Blood Purification
H L Chin, M M Aw, S H Quak, J Huang, C E Hart, K Prabhakaran, D L Goh
Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body. Even when aggressively treated with dietary restriction of BCAA, patients experience long term cognitive, neurological and psychosocial problems. Liver transplantation from deceased donors has been shown to be an effective modality in introducing adequate BCKAD activity, attaining a metabolic cure for patients...
September 2015: Molecular Genetics and Metabolism Reports
P S Atwal, C Macmurdo, P C Grimm
Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre to have haemodialysis performed in this setting. Combined with dietary BCAA restriction and calorific support, haemodialysis allows rapid reduction in plasma leucine concentrations considerably faster than conservative methods...
September 2015: Molecular Genetics and Metabolism Reports
N Mohan, S Karkra, A Rastogi, V Vohra, A S Soin
MSUD occurs due to deficiency of enzyme BCKAD required for metabolism of leucine, isoleucine, and valine leading to the accumulation of these and their ketoacids causing acute metabolic decompensation manifesting as encephalopathy or sudden death. The patient requires special protein-restricted diet to survive. As this enzyme is expressed in liver, liver transplantation has been successfully performed as a cure. We report two patients of MSUD who underwent LDLT while their livers were used as a domino graft for other biliary cirrhotic patients...
May 2016: Pediatric Transplantation
S Sirrs, C Hollak, M Merkel, A Sechi, E Glamuzina, M C Janssen, R Lachmann, J Langendonk, M Scarpelli, T Ben Omran, F Mochel, M C Tchan
BACKGROUND: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders. METHODS: A survey was distributed through the list-serve of the SSIEM Adult Metabolic Physicians group asking clinicians for number of patients with confirmed diagnoses, types of diagnoses and age at diagnosis. RESULTS: Twenty-four adult centres responded to our survey with information on 6,692 patients...
2016: JIMD Reports
Jessie Aw-Zoretic, Nitin R Wadhwani, Rishi R Lulla, Lulla R Rishi, Maura E Ryan
Maple syrup urine disease (MSUD) is an inborn error of branched-chain amino acid metabolism, which usually presents in childhood with encephalopathy due to cerebral edema and dysmyelination. Even with treatment, metabolic stressors may precipitate later episodes of acute decompensation. Changes related to cerebral and white matter edema have been described by magnetic resonance imaging (MRI), and imaging can aid in both initial diagnosis and evaluation of decompensation. To date, there are no published known reports of cancer in patients with MSUD...
September 2015: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Victoria M Díaz, Carmen Camarena, Ángela de la Vega, Mercedes Martínez-Pardo, Carmen Díaz, Manuel López, Francisco Hernández, Ane Andrés, Paloma Jara
OBJECTIVES: The aim of the study was to evaluate indications, results, and clinical and neurological evolution in children who have undergone liver transplantation for classical maple syrup urine disease (MSUD). METHODS: Descriptive study of liver transplantation for MSUD between 1991 and 2012. Eight patients were transplanted. RESULTS: Indications for transplant were poor metabolic control expressed as significant psychomotor disabilities (4 had psychomotor delays, 5 had spasticity, and 5 had epilepsy) and poor quality of life (mean number of acute metabolic decompensations and mean number of total hospitalizations before transplantation 5 and 12, respectively)...
November 2014: Journal of Pediatric Gastroenterology and Nutrition
Giselli Scaini, Meline O S Morais, Leticia S Galant, Francieli Vuolo, Dhébora M Dall'Igna, Matheus A B Pasquali, Vitor M Ramos, Daniel P Gelain, Jose Claudio F Moreira, Patrícia F Schuck, Gustavo C Ferreira, Francisco G Soriano, Felipe Dal-Pizzol, Emilio L Streck
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by a severe deficiency in the activity of the branched-chain α-keto acid dehydrogenase complex, leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Infections have a significant role in precipitating acute metabolic decompensation in patients with MSUD; however, the mechanisms underlying the neurotoxicity in this disorder are poorly understood. In this study, we subjected rats to the coadministration of lipopolysaccharide (LPS), which is a major component of gram-negative bacteria cell walls, and high concentrations of BCAA (H-BCAA) to determine their effects on the permeability of the blood-brain barrier (BBB) and on the levels of matrix metalloproteinases (MMP-2 and MMP-9)...
October 2014: Molecular Neurobiology
Emilie R Muelly, Gregory J Moore, Scott C Bunce, Julie Mack, Don C Bigler, D Holmes Morton, Kevin A Strauss
Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Dietary management enables survival and reduces risk of acute crises. Liver transplantation has emerged as an effective way to eliminate acute decompensation risk. Psychiatric illness is a reported MSUD complication, but has not been well characterized and remains poorly understood. We report the prevalence and characteristics of neuropsychiatric problems among 37 classical MSUD patients (ages 5-35 years, 26 on dietary therapy, 11 after liver transplantation) and explore their underlying mechanisms...
April 2013: Journal of Clinical Investigation
Shane C Quinonez, Steven M Leber, Donna M Martin, Jess G Thoene, Jirair K Bedoyan
We present the biochemical and molecular diagnosis of dihydrolipoamide dehydrogenase deficiency (also known as E3 deficiency) and Leigh syndrome in a 14-year-old girl with learning disability and episodic encephalopathy and ketoacidosis. The diagnosis was based on values of plasma amino acids and urine organic acids, obtained during acute encephalopathy, lactic ketoacidosis, and liver failure, precipitated by infectious mononucleosis. Enzymatic and molecular analyses confirmed dihydrolipoamide dehydrogenase deficiency...
January 2013: Pediatric Neurology
A Servais, J B Arnoux, C Lamy, A Hummel, N Vittoz, I Katerinis, V Bazzaoui, S Dubois, C Broissand, M C Husson, M P Berleur, D Rabier, C Ottolenghi, V Valayannopoulos, P de Lonlay
BACKGROUND: Acute decompensation of maple syrup urine disease (MSUD) is usually treated by enteral feeding with an amino-acid mixture without leucine (Leu), valine or isoleucine. However, its administration is ineffective in cases of gastric intolerance and some adult patients refuse enteral feeding via a nasogastric tube. We developed a new parenteral amino-acid mixture for patients with MSUD. METHODS: Seventeen decompensation episodes in four adult patients with MSUD treated with a parenteral amino-acid mixture (group P) were compared to 18 previous episodes in the same patients treated by enteral feeding (group E)...
November 2013: Journal of Inherited Metabolic Disease
S Harty, M D King, B McCoy, D Costigan, E P Treacy
Maple syrup urine disease (MSUD; OMIM 248600) results from an inherited deficiency of the branched-chain ketoacid dehydrogenase (BCKD) complex. Approximately 20% of patients with BCKD deficiency are non-classic variants of MSUD with differing clinical severity. Outcomes for this cohort are generally favourable; episodes of metabolic decompensation do not appear to correlate with adverse events if acute management is promptly provided. A case of predominantly axonal sensory-motor neuropathy following metabolic decompensation which persisted for a number of months is presented in an adolescent girl with variant (intermediate type) MSUD...
December 2008: Journal of Inherited Metabolic Disease
M L Couce Pico, D E Castiñeiras Ramos, M D Bóveda Fontán, A J Iglesias Rodríguez, J A Cocho de Juan, J M Fraga Bermúdez
INTRODUCTION: Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder caused by an inherited deficiency of branched chain alpha-ketoacid dehydrogenase activity. Accumulation of the amino acids leucine, isoleucine, valine and alloisoleucine and their metabolic products in cells and biological fluids results in severe brain dysfunction. PATIENTS AND METHODS: We present three cases of MSUD diagnosed in Galicia since 2000, the year in which the Extended Newborn Screening Program by tandem mass spectrometry was started in this region...
October 2007: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
E Simon, R Fingerhut, J Baumkötter, V Konstantopoulou, R Ratschmann, U Wendel
BACKGROUND: In the rare autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids and their metabolic products results in acute and chronic brain dysfunction. Since 2002, MSUD has been part of the extended newborn screening programme in Germany and Austria. Early diagnosis and intervention during the presymptomatic or early symptomatic period should improve the outcome of the patients, which would make the case for screening for MSUD...
August 2006: Journal of Inherited Metabolic Disease
Eva Simon, Udo Wendel, Peter Schadewaldt
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that causes acute and chronic brain dysfunction because of a neurotoxic effect of the accumulating branched chain amino acids (BCAA) and their corresponding keto acids. Aim of the treatment is a rapid reversal of the neonatal decompensation and a stable long-term metabolic control obtained by a carefully adjusted BCAA-low diet. In optimally treated patients, an unimpaired neurological and intellectual outcome is possible. Ten patients of Turkish origin suffering from MSUD are presently treated in the Metabolic Unit of the University Hospital in Düsseldorf, Germany...
January 2005: Turkish Journal of Pediatrics
Jeng-Feng Lin, Pao-Chin Chiu, Hui-Ya Hsu, Shu-Ming Lin, Ying-Yao Chen, Kai-Sheng Hsieh
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism. The classic MSUD is the most severe form. The prognosis is usually guarded. The acute metabolic decompensation and neurological deterioration attribute to severe sequelae. The age of diagnosis and subsequent metabolic control are the most important determinants of long-term prognosis. We report one classic MSUD case with good outcome. The early diagnosis was achieved by tandem mass spectrometry screening...
September 2004: Acta Paediatrica Taiwanica, Taiwan Er Ke Yi Xue Hui za Zhi
Stanley Paul Hmiel, Rick A Martin, Michael Landt, Fiona H Levy, Dorothy K Grange
OBJECTIVE: Assessment of amino acid clearances by continuous venovenous hemodialysis with filtration in treatment of a metabolic decompensation in acute maple syrup urine disease. DESIGN: Single patient assessment. SETTING: Pediatric intensive care unit. PATIENTS: A 10-yr-old male with known maple syrup urine disease (branched chain alpha-ketoacid dehydrogenase deficiency) with metabolic decompensation due to an acute viral illness, characterized by altered mental status, progressive obtundation, and severe acidosis...
May 2004: Pediatric Critical Care Medicine
Wajanat Jan, Robert A Zimmerman, Zhiyue J Wang, Gerard T Berry, Paige B Kaplan, Edward M Kaye
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, which affects the brain tissue resulting in impairment or death if untreated. Imaging studies have shown reversible brain edema during acute metabolic decompensation. The purpose of this paper is to describe the diffusion-weighted imaging (DWI) and spectroscopy findings during metabolic decompensation and to assess the value of these findings in the prediction of patient outcome. Six patients with the diagnosis of MSUD underwent conventional MR imaging with DWI during acute presentation with metabolic decompensation...
June 2003: Neuroradiology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"