Avaliação nutricional de paciente com deficiência de biotinidase
Biotinidase deficiency is an inborn error of metabolism with an autosomal recessive pattern of inheritance, where biotinidase enzyme activity is absent or reduced as a result, the body is unable to recycle biotin and has the loss of biocytin in the urine with subsequent elimination of biocytin...
| Autor principal: | RODRIGUES, Kethleen Paula Monteiro |
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| Grau: | Trabalho de Conclusão de Curso - Graduação |
| Publicado em: |
2023
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oai:https:--bdm.ufpa.br:8443:prefix-53162023-03-02T03:05:42Z Avaliação nutricional de paciente com deficiência de biotinidase RODRIGUES, Kethleen Paula Monteiro SILVA, Luiz Carlos Santana da http://lattes.cnpq.br/6161491684526382 https://orcid.org/0000-0003-1017-6221 Deficiência de biotinidase Erros inatos do metabolismo Avaliação nutricional Relato de caso Biotinidase deficiency Inborn errors of metabolism Nutritional assessment Case report CNPQ::CIENCIAS DA SAUDE::NUTRIÇÃO Biotinidase deficiency is an inborn error of metabolism with an autosomal recessive pattern of inheritance, where biotinidase enzyme activity is absent or reduced as a result, the body is unable to recycle biotin and has the loss of biocytin in the urine with subsequent elimination of biocytin in the urine. It can be classified into two subgroups: profound and partial deficiency, depending on the enzymatic activity which is approximately less than 10% and between 10 and 30% of the average normal activity, respectively. Clinical manifestations include: alopecia, developmental delay, muscle hypotonia, epileptic seizures, skin infections, conjunctivitis, hearing impairment, lethargy, respiratory problems, visual impairments, coma, diarrhea and fungal infections. The diagnosis can be made by neonatal screening better known for Newborn Screening Test before the onset of symptoms, as early as possible. Treatment is through oral administration of biotin. in doses of 5 to 20 mg, regardless of weight and age. The treatment is simple and inexpensive. Objective: Evaluate the nutritional profile of a patient with biotinidase deficiency diagnosed in a reference laboratory for inborn errors of metabolism. Methodology: Data were collected from the patient's medical records and nutritional assessments were performed, weight, height, arm and waist circumference were measured, beyond triceps and subscapular skinfolds, head circumference additionally and a food frequency questionnaire was applied. Results: A diagnosis of malnutrition, mild deficit of fat mass, low weight for age, very short height for age and BMI with risk of overweight for age were obtained. Conclusion: Because it is only one patient, the results are limited and more studies related to the nutritional management of patients diagnosed with biotinidase deficiency are needed. A deficiência de biotinidase é um erro inato do metabolismo com padrão de herança autossômica recessiva, na qual a atividade da enzima biotinidase é ausente ou reduzida, como resultado tem-se a incapacidade do organismo em fazer a reciclagem da biotina com posterior eliminação de biocitina pela urina. Pode ser classificada em dois subgrupos: deficiência profunda e parcial, dependendo da atividade enzimática que é aproximadamente inferior a 10% e entre 10 e 30% da atividade média normal, respectivamente. As manifestações clínicas incluem: alopecia, atraso no desenvolvimento, hipotonia muscular, crises epilépticas, infecções de pele, ataxia, conjuntivite, deficiência auditiva, letargia, problemas respiratórios, deficiências visuais, coma, diarreia e infecções fúngicas. O diagnóstico pode ser realizado através da triagem neonatal mais conhecido como o teste do pezinho, antes do início dos sintomas, de maneira precoce. O tratamento é através da administração oral de biotina em doses de 5 a 20 mg, independente do peso e idade. Objetivo: Avaliar perfil nutricional de um paciente com deficiência de biotinidase diagnosticado em laboratório de referência para erros inatos do metabolismo. Métodos: Foram coletados dados clínicos e laboratoriais, a partir do prontuário do paciente e adicionalmente foi aplicada uma ficha para a avaliação nutricional, sendo aferido peso, estatura, circunferência do braço, circunferência da cintura, pregas cutâneas tricipital e subescapular, perímetro cefálico. De forma complementar, foi aplicado um questionário de frequência alimentar. Resultados: Obteve-se nas avaliações baixo peso para idade, estatura muito baixa para idade no parâmetro IMC/I com risco de sobrepeso. Conclusão: Por se tratar de apenas um paciente, os resultados são limitados e mais estudos relacionados ao manejo nutricional de pacientes diagnosticados com deficiência de biotinidase são necessários. 2023-03-01T13:51:14Z 2023-03-01T13:51:14Z 2022 Trabalho de Conclusão de Curso - Graduação RODRIGUES, Kethleen Paula Monteiro Rodrigues. Avaliação nutricional de paciente com deficiência de biotinidase. Orientador: Luiz Carlos Santana da Silva. 2022. 65 f. Trabalho de Conclusão de Curso (Bacharelado em Nutrição)- Faculdade de Nutrição, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2022. Disponível em: https://bdm.ufpa.br:8443/jspui/handle/prefix/5316. Acesso em:. https://bdm.ufpa.br:8443/jspui/handle/prefix/5316 Acesso Aberto Disponível na internet via correio eletrônico: bibsaude@ufpa.br |
| institution |
Biblioteca Digital de Monografias - UFPA |
| collection |
MonografiaUFPA |
| topic |
Deficiência de biotinidase Erros inatos do metabolismo Avaliação nutricional Relato de caso Biotinidase deficiency Inborn errors of metabolism Nutritional assessment Case report CNPQ::CIENCIAS DA SAUDE::NUTRIÇÃO |
| spellingShingle |
Deficiência de biotinidase Erros inatos do metabolismo Avaliação nutricional Relato de caso Biotinidase deficiency Inborn errors of metabolism Nutritional assessment Case report CNPQ::CIENCIAS DA SAUDE::NUTRIÇÃO RODRIGUES, Kethleen Paula Monteiro Avaliação nutricional de paciente com deficiência de biotinidase |
| topic_facet |
Deficiência de biotinidase Erros inatos do metabolismo Avaliação nutricional Relato de caso Biotinidase deficiency Inborn errors of metabolism Nutritional assessment Case report CNPQ::CIENCIAS DA SAUDE::NUTRIÇÃO |
| description |
Biotinidase deficiency is an inborn error of metabolism with an autosomal recessive
pattern of inheritance, where biotinidase enzyme activity is absent or reduced as a result, the
body is unable to recycle biotin and has the loss of biocytin in the urine with subsequent
elimination of biocytin in the urine. It can be classified into two subgroups: profound and
partial deficiency, depending on the enzymatic activity which is approximately less than 10%
and between 10 and 30% of the average normal activity, respectively. Clinical manifestations
include: alopecia, developmental delay, muscle hypotonia, epileptic seizures, skin infections,
conjunctivitis, hearing impairment, lethargy, respiratory problems, visual impairments, coma,
diarrhea and fungal infections. The diagnosis can be made by neonatal screening better known
for Newborn Screening Test before the onset of symptoms, as early as possible. Treatment is
through oral administration of biotin. in doses of 5 to 20 mg, regardless of weight and age.
The treatment is simple and inexpensive. Objective: Evaluate the nutritional profile of a
patient with biotinidase deficiency diagnosed in a reference laboratory for inborn errors of
metabolism. Methodology: Data were collected from the patient's medical records and
nutritional assessments were performed, weight, height, arm and waist circumference were
measured, beyond triceps and subscapular skinfolds, head circumference additionally and a
food frequency questionnaire was applied. Results: A diagnosis of malnutrition, mild deficit
of fat mass, low weight for age, very short height for age and BMI with risk of overweight for
age were obtained. Conclusion: Because it is only one patient, the results are limited and more
studies related to the nutritional management of patients diagnosed with biotinidase
deficiency are needed. |
| author_additional |
SILVA, Luiz Carlos Santana da |
| author_additionalStr |
SILVA, Luiz Carlos Santana da |
| format |
Trabalho de Conclusão de Curso - Graduação |
| author |
RODRIGUES, Kethleen Paula Monteiro |
| title |
Avaliação nutricional de paciente com deficiência de biotinidase |
| title_short |
Avaliação nutricional de paciente com deficiência de biotinidase |
| title_full |
Avaliação nutricional de paciente com deficiência de biotinidase |
| title_fullStr |
Avaliação nutricional de paciente com deficiência de biotinidase |
| title_full_unstemmed |
Avaliação nutricional de paciente com deficiência de biotinidase |
| title_sort |
avaliação nutricional de paciente com deficiência de biotinidase |
| publishDate |
2023 |
| url |
https://bdm.ufpa.br:8443/jspui/handle/prefix/5316 |
| _version_ |
1787155438241841152 |
| score |
11.755432 |