<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.2d1 20170631//EN" "JATS-journalpublishing1.dtd">
<ArticleSet>
<Article>
<Journal>
<PublisherName>jmedicalcasereports</PublisherName>
<JournalTitle>Frontiers in Medical Case Reports</JournalTitle>
<PISSN>I</PISSN>
<EISSN>S</EISSN>
<Volume-Issue>Volume 3; Issue 4</Volume-Issue>
<PartNumber/>
<IssueTopic>Multidisciplinary</IssueTopic>
<IssueLanguage>English</IssueLanguage>
<Season>(Jul-Aug, 2022)</Season>
<SpecialIssue>N</SpecialIssue>
<SupplementaryIssue>N</SupplementaryIssue>
<IssueOA>Y</IssueOA>
<PubDate>
<Year>-0001</Year>
<Month>11</Month>
<Day>30</Day>
</PubDate>
<ArticleType>Clinical Case Reports</ArticleType>
<ArticleTitle>Clinical Condition, Nutritional Status and Food Consumption of Patients with Maple Syrup Urine Disease</ArticleTitle>
<SubTitle/>
<ArticleLanguage>English</ArticleLanguage>
<ArticleOA>Y</ArticleOA>
<FirstPage>1</FirstPage>
<LastPage>13</LastPage>
<AuthorList>
<Author>
<FirstName>Pollyana Amaral Braz</FirstName>
<LastName>Paulino</LastName>
<AuthorLanguage>English</AuthorLanguage>
<Affiliation/>
<CorrespondingAuthor>N</CorrespondingAuthor>
<ORCID/>
<FirstName>Maiara Frizo</FirstName>
<LastName>Turatti</LastName>
<AuthorLanguage>English</AuthorLanguage>
<Affiliation/>
<CorrespondingAuthor>Y</CorrespondingAuthor>
<ORCID/>
<FirstName>Luiz Roberto da</FirstName>
<LastName>Silva</LastName>
<AuthorLanguage>English</AuthorLanguage>
<Affiliation/>
<CorrespondingAuthor>Y</CorrespondingAuthor>
<ORCID/>
<FirstName>Amanda Torido</FirstName>
<LastName>Santos</LastName>
<AuthorLanguage>English</AuthorLanguage>
<Affiliation/>
<CorrespondingAuthor>Y</CorrespondingAuthor>
<ORCID/>
<FirstName>Geórgia das Graças</FirstName>
<LastName>Pena</LastName>
<AuthorLanguage>English</AuthorLanguage>
<Affiliation/>
<CorrespondingAuthor>Y</CorrespondingAuthor>
<ORCID/>
</Author>
</AuthorList>
<DOI/>
<Abstract>Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by an enzyme deficiency and leads to the accumulation of branched-chain amino acids (BCAAs), which are toxic to the body in high concentrations. Part of the treatment is based on dietary control and a reduced intake of BCAAs. The objective of this study was to describe the clinical condition, nutritional status and food consumption of patients with MSUD. Two patients diagnosed with MSUD were selected. Interviews and nutritional, body composition, and food consumption assessments were carried out. Energy, macronutrients, micronutrients, BCCAs, and fiber contents were estimate. All clinical data were obtained from medical records. Both patients showed manifestations of neuropsychomotor development delay with intellectual disability. Regarding nutritional status, one patient was overweight, and the other was underweight, with low functional capacity in both of them. A monotonous dietary pattern and a low intake of energy, proteins, vitamins, and minerals were observed, but there was a high consumption of BCAAs by one of the patients. Developmental and intellectual disabilities were observed besides the changes in nutritional status (underweight and overweight), low functional capacity, dietary inadequacies in terms of energy, macronutrients, and micronutrients, besides a monotonous food consumption pattern.</Abstract>
<AbstractLanguage>English</AbstractLanguage>
<Keywords>Inborn Errors of Metabolism,Maple Syrup Urine Disease,Branched-Chain Amino Acids,Body Composition,Clinical Reports</Keywords>
<URLs>
<Abstract>https://jmedicalcasereports.org/ubijournal-v1copy/journals/abstract.php?article_id=13909&title=Clinical Condition, Nutritional Status and Food Consumption of Patients with Maple Syrup Urine Disease</Abstract>
</URLs>
<References>
<ReferencesarticleTitle>References</ReferencesarticleTitle>
<ReferencesfirstPage>16</ReferencesfirstPage>
<ReferenceslastPage>19</ReferenceslastPage>
<References>Almeida MF. Consenso para o tratamento nutricional da Leucinose. Acta Pediand;aacute;trica Portuguesa 2007; 38: 120-128.
Barbosa-Silva MC, Barros AJ, Wang J, Heymsfield SB, Pierson Jr RN. Bioelectrical impedance analysis: population reference values for phase angle by age and sex. Am J Clin Nutr 2005; 82: 49-52.
Blackburn GL, Thornton PA. Nutritional assessment of the hospitalized patient. Med Clin North Am 1979; 63: 11103-11115.
Bohannon RW, Peolsson A, Massy-Westropp N, Desrosiers J, Bear-Lehman J. Reference values for adult grip strength measured with a Jamar dynamometer: a descriptive meta-analysis. Physiotherapy 2006; 92: 11-15.
Casey PH, Goolsby SL, Lensing SY, Perloff BP, Bogle ML. The use of telephone interview methodology to obtain 24-hour dietary recalls. J Am Diet Assoc 1999; 99: 1406-1411.
Chuang DT. Maple syrup urine disease (branched-chain ketoaciduria). In: The metabolic e molecular bases of inherited disease. Scriver, CR, Beaudet al, Sly WS, Valle D, editors. 8th ed. New York: McGraw-Hill. 2001; p.1971-2005.
Chuang JL, Wynn RM, Moss CC, Song JL, Li J, Awad N, Mandel H, Chuang DT. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. J Biol Chem 2004; 279: 17792–17800.
da Cruz AF and valadares, ER. Caracterizaand;ccedil;and;atilde;o cland;iacute;nica, bioquand;iacute;mica e molecular de pacientes com doenand;ccedil;a da urina do xarope de bordo. Universidade Federal de Minas Gerais (Dissertaand;ccedil;and;atilde;o Mestrado) 2014.
Eickemberg M, Oliveira CC, Anna Karla Carneiro R, Sampaio LR. Bioimpedand;acirc;ncia eland;eacute;trica e sua aplicaand;ccedil;and;atilde;o em avaliaand;ccedil;and;atilde;o nutricional. Rev Nutr 2011; 24: 873-882.
Escobar-Morreale HF. Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment. Nat Rev Endocrinol 2018; 14: 270–284.
Faludi AA, Izar MC, Saraiva JF, Chacra AP, Bianco HT, Afiune A, Bertolami A, Pereira AC, Lottenberg AM, Sposito AC, Chagas AC. Atualizaand;ccedil;and;atilde;o da Diretriz Brasileira de Dislipidemias e Prevenand;ccedil;and;atilde;o da Aterosclerose - 2017. Arq Bras Cardiol 2017; 109: 1-76.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab 2014; 112: 210-217.
Frisancho AR. Anthropometric standards for the assessment of growth and nutritional status. Ann Arbor, Michigan: University of Michigan Press, 1990.
Herber Silvani. Doenand;ccedil;a da urina do xarope de bordo no brasil: um panorama das duas and;uacute;ltimas dand;eacute;cadas. Universidade Federal do Rio Grande do Sul (Dissertaand;ccedil;and;atilde;o Mestrado) 2012.
Hillman TE, Nunes QM, Hornby ST, Stanga Z, Neal KR, Rowlands BJ, Allison SP, Lobo DN. A practical posture for hand grip dynamometry in the clinical setting. Clin Nutr 2005; 24: 224 -228.
Huang RY, Yang KC, Chang HH, Lee LT, Lu CW, Huang KC. The association between total protein and vegetable protein intake and low muscle mass among the community-dwelling elderly population in Northern Taiwan. Nutrients Kaohsiung 2016; 8: 373.
Institute of Medicine. Dietary Reference Intakes for Calcium and Vitamin D. Washington, DC: The National Academies Press 2011.
Institute of Medicine. Dietary Reference Intakes: Applications in dietary assessment. Food and Nutrition Board. Washington DC. National Academy Press 2000.
Institute of Medicine. National Academies of Sciences, Engineering, and Medicine. Dietary Reference Intakes for Sodium and Potassium. Washington, DC: The National Academies Press 2019.
Kimball SR, Jefferson LS. Signaling pathways and molecular mechanisms through which branched-chain amino acids mediate translational control of protein synthesis. J Nutr 2006; 136: 227S-231S.
Kyle UG, Genton L, Slosman DO, Pichard C. Fat-free and fat mass percentiles in 5225 healthy subjects aged 15 to 98 years. Nutrition 2001 17: 534-541.
Limberger VR, Pastore CA, Abib RT. Associaand;ccedil;and;atilde;o entre dinamometria manual, estado nutricional e complicaand;ccedil;and;otilde;es pand;oacute;s-operatand;oacute;rias em pacientes oncoland;oacute;gicos. Rev Bras Cancerol 2014; 60: 135-141.
Lohman TG, Roche AF, Martorell R. Anthropometric standardization reference manual. Human Kinetics: Champaign, 1988.
Lohman TG. Advances in body composition assessment. Champaign, IL: Human Kinetics Publishers 1992; pp. 1-23.
Lohman TG. Advances in body composition assessment. Champaing, IL: Human Kinetics Publishers 1991.
Martins AM, Frangipani BJ, Micheletti C. Protocolo brasileiro de dietas: Erros Inatos do Metabolismo. Segmento Farm. Sand;atilde;o Paulo 2006; pp. 120.
Menkes J, Hurst P, Craig J. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 1954; 14: 462 – 467.
Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics 2002; 109: 999-1008.
Philippi ST. Tabela de Composiand;ccedil;and;atilde;o de Alimentos: Suporte para decisand;atilde;o nutricional. 2ª ed. Sand;atilde;o Paulo: Coronand;aacute;rio 2002; pp. 135.
Pinheiro AB, Lacerda EM, Benzecry EH, Gomes MC, Costa VM. Tabela para avaliaand;ccedil;and;atilde;o de consumo alimentar em medidas caseiras. 5ª ediand;ccedil;and;atilde;o. Atheneu. Rio de Janeiro 2005; pp. 131-131.
Prasad C, Dalton L, Levy H. Role of diet therapy in management of hereditary metabolic diseases. Nutr Res 18: 391-402, 1998.
Rinaldi S, Gilliland J, Oand;#39;Connor C, Chesworth B, Madill J. Is phase angle an appropriate indicator of malnutrition in different disease states? A systematic review. Clin Nutr ESPEN 2019; pp: 1-14.
Schland;uuml;ssel MM, Anjos LA, Kac G. Dinanometria manual e o seu uso na avaliaand;ccedil;and;atilde;o nutricional. Revista de Nutriand;ccedil;and;atilde;o 2008; 21: 233-235.
Schand;ouml;nberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 2004; 82: 69-75.
Sgaravatti AM, Rosa RB, Schuck PF, Ribeiro CA, Wannmacher CM, Wyse AT, Dutra-Filho CS, Wajner M. Inhibition of brain energy metabolism by the alphaketo acids accumulating in maple syrup urine disease. Biochim Biophys Acta 2003; 1639: 232-238.
Strauss KA, Morton DH. Branched-chain ketoacyl dehydrogenase deficiency: Maple Syrup Diasease. Curr Treat Options Neurol 2003; 5: 329-341.
TACO. Tabela brasileira de composiand;ccedil;and;atilde;o de alimentos. UNICAMP. 4ª edicao. 2011.
WHO. World Health Organization. Obesity: preventing and managing the global epidemic. Geneva, 1998.
WHO. World Health Organization. Physical status: the use and interpretation of anthropometry. Geneva, 1995.
Zinnanti WJ, Lazovic J. Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy. J Inherit Metab Dis 2012; 35: 71-79.</References>
</References>
</Journal>
</Article>
</ArticleSet>