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Search on : maple and syrup and urine and disease [Words]
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[PMID]: 28465033
[Au] Autor:Kim JI; Noh JY; Kim M; Park JM; Song HW; Kang MJ; Pyun JC
[Ad] Address:Department of Materials Sciences and Engineering, Yonsei University, Seoul, South Korea.
[Ti] Title:Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip.
[So] Source:Anal Biochem;530:31-39, 2017 08 01.
[Is] ISSN:1096-0309
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%. Methanol extraction was adopted for simple and rapid sample preparation of serum before mass spectrometric analysis showing 13.3 to 45% of extraction efficiency. Calibration curves for diagnosis of neonatal metabolic disorders were obtained by analyzing methanol-extracted serum spiked with target amino acids using MALDI-ToF MS. They showed good linearity (R > 0.98) and the LODs were ranging from 9.0 to 22.9 µg/mL. Effect of proteins in serum was estimated by comparing MALDI-ToF mass spectra of amino acids-spiked serum before and after the methanol extraction. Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders.
[Mh] MeSH terms primary: Amino Acids/blood
Neonatal Screening/methods
Polymers/chemistry
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods
Xylenes/chemistry
[Mh] MeSH terms secundary: Amino Acids/chemistry
Humans
Infant, Newborn
Limit of Detection
Reproducibility of Results
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Amino Acids); 0 (Polymers); 0 (Xylenes); 25722-33-2 (parylene)
[Em] Entry month:1708
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[Js] Journal subset:IM
[Da] Date of entry for processing:170504
[St] Status:MEDLINE

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[PMID]: 29306928
[Au] Autor:Zeynalzadeh M; Tafazoli A; Aarabi A; Moghaddassian M; Ashrafzadeh F; Houshmand M; Taghehchian N; Abbaszadegan MR
[Ad] Address:Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
[Ti] Title:Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
[So] Source:J Pediatr Endocrinol Metab;31(2):205-212, 2018 Jan 26.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. The current study analyzed seven Iranian MSUD patients genetically and explored probable correlations between their genotype and phenotype. METHODS: The panel of genes, including BCKDHA, BCKDHB and DBT, was evaluated, using routine the polymerase chain reaction (PCR)-sequencing method. In addition, protein modeling (homology and threading modeling) of the deduced novel mutations was performed. The resulting structures were then analyzed, using state-of-the-art bioinformatics tools to better understand the structural and functional effects caused by mutations. RESULTS: Seven mutations were detected in seven patients, including four novel pathogenic mutations in BCKDHA (c.1198delA, c.629C>T), BCKDHB (c.652C>T) and DBT (c.1150A>G) genes. Molecular modeling of the novel mutations revealed clear changes in the molecular energy levels and stereochemical traits of the modeled proteins, which may be indicative of strong correlations with the functional modifications of the genes. Structural deficiencies were compatible with the observed phenotypes. CONCLUSIONS: Any type of MSUD can show heterogeneous clinical manifestations in different ethnic groups. Comprehensive molecular investigations would be necessary for differential diagnosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180131
[Lr] Last revision date:180131
[St] Status:In-Process

  3 / 1241 MEDLINE  
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[PMID]: 29307017
[Au] Autor:Li X; Yang Y; Gao Q; Gao M; Lv Y; Dong R; Liu Y; Zhang K; Gai Z
[Ad] Address:Department of Neonatology, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, China.
[Ti] Title:Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
[So] Source:Metab Brain Dis;, 2018 Jan 06.
[Is] ISSN:1573-7365
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Maple syrup urine disease (MSUD) is an autosomal recessive disorder affecting branched-chain amino acids (BCAAs) metabolism and caused by a defect in the thiamine-dependent enzyme branched chain α-ketoacid dehydrogenase (BCKD) with subsequent accumulation of BCAAs and corresponding branched-chain keto acids (BCKAs) metabolites. Presently, at least 4 genes of BCKDHA, BCKDHB, DLD and DBT have been reported to cause MSUD. Furthermore, more than 265 mutations have been identified as the cause across different populations worldwide. Some studies have reported the data of gene mutations in Chinese people with MSUD. In this study, we present clinical characteristics and mutational analyses in five Chinese Han child with MSUD, which had been screened out by tandem mass spectrometry detection of amino acids in blood samples. High-throughput sequencing, Sanger sequence and real-time qualitative PCR were performed to detect and verify the genetic mutations. Six different novel genetic variants were validated in BCKDHB gene and BCKDHA gene, including c.523 T > C, c.659delA, c.550delT, c.863G > A and two gross deletions. Interestingly, 3 cases had identical mutation of BCKDHB gene (c.659delA). We predicted the pathogenicity and analyzed the clinical characteristics. The identification of these mutations in this study further expands the mutation spectrum of MSUD and contributes to prenatal molecular diagnosis of MSUD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180107
[Lr] Last revision date:180107
[St] Status:Publisher
[do] DOI:10.1007/s11011-017-0168-0

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[PMID]: 29095391
[Au] Autor:Rodan LH; Aldubayan SH; Berry GT; Levy HL
[Ad] Address:From the *Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
[Ti] Title:Acute Illness Protocol for Maple Syrup Urine Disease.
[So] Source:Pediatr Emerg Care;, 2017 Oct 31.
[Is] ISSN:1535-1815
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inborn errors of metabolism (IEMs) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare but collectively have an incidence of 1:1000. Most patients with IEMs are followed up by a physician with expertise in biochemical genetics (metabolism), but may present outside this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency medicine physician, pediatrician, internist, and critical care physician as well as the biochemical geneticist to have information on the initial assessment and management of patients with these disorders. Appropriate early care can be lifesaving. This protocol is not designed to replace the expert consultation of a biochemical geneticist, but rather to improve early care and increase the level of comfort of the acute care physician with initial management of maple syrup urine disease until specialty consultation is obtained.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171103
[Lr] Last revision date:171103
[St] Status:Publisher
[do] DOI:10.1097/PEC.0000000000001299

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[PMID]: 29094226
[Au] Autor:Wasim M; Awan FR; Khan HN; Tawab A; Iqbal M; Ayesha H
[Ad] Address:Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) / [Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad], Jhang Road, P.O. Box. 577, Faisalabad, 38000, Pakistan.
[Ti] Title:Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
[So] Source:Biochem Genet;, 2017 Nov 01.
[Is] ISSN:1573-4927
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies. Out of 91 treatable IEM, thirteen disorders are amino acid related. Aminoacidopathies can be detected by chromatography and mass spectrometry based analytical techniques (e.g., HPLC, GC-MS, LC-MS/MS) for amino acid level changes, and through genetic assays (e.g., PCR, TaqMan Genotyping, DNA sequencing) at the mutation level in the corresponding genes. Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and type II, Argininosuccinic aciduria, Carbamoyl Phosphate Synthetase I (CPS) deficiency, Argininemia (arginase deficiency), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, N-Acetylglutamate Synthase (NAGS) deficiency, Ornithine Transcarbamylase (OTC) deficiency, and Pyruvate Dehydrogenase (PDH) complex deficiency. Furthermore, the etiology, prevalence and commonly used analytical techniques for screening of aminoacidopathies are briefly described. This information would be helpful to researchers and clinicians especially from developing countries to initiate newborn screening programs for aminoacidopathies.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:Publisher
[do] DOI:10.1007/s10528-017-9825-6

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[PMID]: 29039163
[Au] Autor:Huang X; Zhang Y; Hong F; Zheng J; Yang J; Tong F; Mao H; Huang X; Zhou X; Yang R; Zhao Z
[Ad] Address:Department of Genetic and Metabolic Diseases, the Children's Hospital, Zhejiang University School of Medicine, Neonatal Screening Center of Zhejiang Province, Hangzhou 310003, China.
[Ti] Title:[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
[So] Source:Zhejiang Da Xue Xue Bao Yi Xue Ban;46(3):233-239, 2017 May 25.
[Is] ISSN:1008-9292
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type â…  (1:265 700), 6 with hyperprolinemia type â…  (1:310 000), and 2 with carbamylphosphate synthetase â…  deficiency(1:930 000). In addition, ornithine transcarbamylase deficiency, cystathionine ß-synthase deficiency, argininosucoinate aciduria and tyrosinemia type â…  were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up. CONCLUSIONS: Hyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:In-Data-Review

  7 / 1241 MEDLINE  
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[PMID]: 29032949
[Au] Autor:Scott AI; Cusmano-Ozog K; Enns GM; Cowan TM
[Ad] Address:Department of Pathology, Stanford University School of Medicine, Stanford, CA, United States.
[Ti] Title:Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
[So] Source:Mol Genet Metab;, 2017 Oct 05.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: Maple Syrup Urine Disease (MSUD) is a rare disorder of branched-chain amino acid catabolism associated with encephalopathy from accumulation of leucine. Leucine is closely monitored during normal growth and particularly during acute illness. As most hospitals do not have access to rapid plasma amino acid quantification, the initial management is often empirical. A model describing the reduction of plasma leucine in hyperleucinemic patients on leucine-free formula would help to guide management and optimize testing frequency. METHODS: We retrospectively reviewed charts from 15 MSUD patients comprising 29 episodes of hyperleucinemia that were managed with leucine-free formula. Episodes were categorized by clinical presentation. RESULTS: Upon leucine restriction, plasma leucine concentrations fell exponentially at a rate proportional to approximately 50% of the starting value over each 24-hour period. Recovery appears to be sensitive to clinical status and triggering event of the hyperleucinemic episode. Patients with upper respiratory infections generally recovered slowly, while cases of dietary non-adherence resolved more quickly. CONCLUSION: This general model may help anticipate leucine levels during clinical management of MSUD patients when using nutritional support and leucine-free formula. The response of individual patients may vary depending on clinical status and triggering factors.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171016
[Lr] Last revision date:171016
[St] Status:Publisher

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[PMID]: 28919799
[Au] Autor:Blackburn PR; Gass JM; Vairo FPE; Farnham KM; Atwal HK; Macklin S; Klee EW; Atwal PS
[Ad] Address:Center for Individualized Medicine.
[Ti] Title:Maple syrup urine disease: mechanisms and management.
[So] Source:Appl Clin Genet;10:57-66, 2017.
[Is] ISSN:1178-704X
[Cp] Country of publication:New Zealand
[La] Language:eng
[Ab] Abstract:Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 170922
[Lr] Last revision date:170922
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.2147/TACG.S125962

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[PMID]: 28905140
[Au] Autor:Abi-Wardé MT; Roda C; Arnoux JB; Servais A; Habarou F; Brassier A; Pontoizeau C; Barbier V; Bayart M; Leboeuf V; Chadefaux-Vekemans B; Dubois S; Assoun M; Belloche C; Alili JM; Husson MC; Lesage F; Dupic L; Theuil B; Ottolenghi C; de Lonlay P
[Ad] Address:Reference Center of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.
[Ti] Title:Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
[So] Source:J Inherit Metab Dis;40(6):783-792, 2017 Nov.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a cohort of patients with neonatal-onset MSUD. METHODS: Data on academic achievement, psychological care, family involvement, and biochemical parameters were collected from the medical records of neonatal MSUD patients treated at Necker Hospital (Paris) between 1964 and 2013. RESULTS: Thirty-five MSUD patients with a mean age of 16.3 (2.1-49.0) years participated. Metabolic decompensations (plasma leucine >380 µmol/L) were more frequent during the first year of life and after 15 years, mainly due to infection and dietary noncompliance, respectively. Leucine levels increased significantly in adulthood: 61.5% of adults were independent and achieved adequate social and professional integration; 56% needed occasional or sustained psychological or psychiatric care (8/19, with externalizing, mood, emotional, and anxiety disorders being the most common). Patients needing psychiatric care were significantly older [mean and standard deviation (SD) 22.6 (7.7) years] than patients needing only psychological follow-up [mean (SD) 14.3 (8.9) years]. Patients with psychological follow-up experienced the highest lifetime number of decompensations; 45% of families had difficulty coping with the chronic disease. Parental involvement was negatively associated with the number of lifetime decompensations. CONCLUSION: Adults had increased levels of plasma leucine, consistent with greater chronic toxicity. Psychological care was associated with age and number of decompensations. In addition, parental involvement appeared to be crucial in the management of MSUD patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[St] Status:In-Process
[do] DOI:10.1007/s10545-017-0083-x

  10 / 1241 MEDLINE  
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[PMID]: 28830848
[Au] Autor:Cheng A; Han L; Feng Y; Li H; Yao R; Wang D; Jin B
[Ad] Address:Department of Radiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. kking1105@163.com.
[Ti] Title:MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.
[So] Source:Diagn Interv Radiol;23(5):398-402, 2017 Sep-Oct.
[Is] ISSN:1305-3612
[Cp] Country of publication:Turkey
[La] Language:eng
[Ab] Abstract:PURPOSE: We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD). METHODS: This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed. RESULTS: Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. On diffusion-weighted imaging, nine cases presented restricted diffusion in myelinated areas, and one intermittent case with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases; the cerebellum, mesencephalon, pons, and supratentorial area in five cases; and the thalamus in four cases, respectively. The intermittent form involved the cerebellum, pons, and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area. CONCLUSION: Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170924
[Lr] Last revision date:170924
[St] Status:In-Process
[do] DOI:10.5152/dir.2017.16466


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