Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

Detalhes bibliográficos
Autor(a) principal: Oliveira,Allan Chiaratti de
Data de Publicação: 2001
Outros Autores: Santos,Amélia Miyashiro Nunes dos, Martins,Ana Maria, D'Almeida,Vânia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000500002
Resumo: CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hospital São Paulo, in an attempt to initiate support treatment, when available, before clinical manifestations become evident. DESIGN: Prospective study of risk patients. SETTING: Laboratory for Inborn Errors of Metabolism at the Center for Medical Genetics of the Departments of Pediatrics and Morphology of Universidade Federal de São Paulo/Escola Paulista de Medicina.Newborn care unit at a tertiary care hospital. PARTICIPANTS: 101 children admitted into the Neonatal Unit were included in this study by presenting hypoglycemia, metabolic acidosis, jaundice, difficulty in gaining weight, diarrhea, vomiting, hepato- and/or splenomegaly, cataracts, apnea, convulsions, hypo- or hypertonia. DIAGNOSTIC TESTS: Tests routinely utilized, performed for qualitative research of abnormal substances excreted in the urine in situations of metabolic disorder. RESULTS: Children were included in the study mainly because of presenting hypoglycemia, jaundice and metabolic acidosis. Sixty-four newborns presented at least one positive test result. Most of the positivity was due to transitory metabolic alterations of the newborn, such as the case of Transitory Neonatal Tyrosinemia, presented by 29 patients. Nine infants were referred to the Center for Medical Genetics of Universidade Federal de São Paulo for continuation of the diagnostic investigation. For three of them, the tests applied permitted us to formulate a diagnostic hypothesis of mucopolysaccharidosis, tyrosinemia type I and non-ketotic hyperglycinemia, respectively. CONCLUSIONS: The high positivity observed in the tests reflects the newborn's own metabolic immaturity. The selection of 9% of the studied cases for outpatient follow-up confirms that Inborn Errors of Metabolism must be suspected whenever a patient presents metabolic disturbances or neurological manifestations without a determined cause. They should be researched in parallel with the other diagnostic possibilities and not just taken to be exceptional diagnoses.
id APM-1_2fd24b1e6a3355d6c3d6e6d7c52122bf
oai_identifier_str oai:scielo:S1516-31802001000500002
network_acronym_str APM-1
network_name_str São Paulo medical journal (Online)
repository_id_str
spelling Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined causeInborn Errors of MetabolismInherited Metabolic DisordersNewbornsUrinary ScreeningCONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hospital São Paulo, in an attempt to initiate support treatment, when available, before clinical manifestations become evident. DESIGN: Prospective study of risk patients. SETTING: Laboratory for Inborn Errors of Metabolism at the Center for Medical Genetics of the Departments of Pediatrics and Morphology of Universidade Federal de São Paulo/Escola Paulista de Medicina.Newborn care unit at a tertiary care hospital. PARTICIPANTS: 101 children admitted into the Neonatal Unit were included in this study by presenting hypoglycemia, metabolic acidosis, jaundice, difficulty in gaining weight, diarrhea, vomiting, hepato- and/or splenomegaly, cataracts, apnea, convulsions, hypo- or hypertonia. DIAGNOSTIC TESTS: Tests routinely utilized, performed for qualitative research of abnormal substances excreted in the urine in situations of metabolic disorder. RESULTS: Children were included in the study mainly because of presenting hypoglycemia, jaundice and metabolic acidosis. Sixty-four newborns presented at least one positive test result. Most of the positivity was due to transitory metabolic alterations of the newborn, such as the case of Transitory Neonatal Tyrosinemia, presented by 29 patients. Nine infants were referred to the Center for Medical Genetics of Universidade Federal de São Paulo for continuation of the diagnostic investigation. For three of them, the tests applied permitted us to formulate a diagnostic hypothesis of mucopolysaccharidosis, tyrosinemia type I and non-ketotic hyperglycinemia, respectively. CONCLUSIONS: The high positivity observed in the tests reflects the newborn's own metabolic immaturity. The selection of 9% of the studied cases for outpatient follow-up confirms that Inborn Errors of Metabolism must be suspected whenever a patient presents metabolic disturbances or neurological manifestations without a determined cause. They should be researched in parallel with the other diagnostic possibilities and not just taken to be exceptional diagnoses.Associação Paulista de Medicina - APM2001-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000500002Sao Paulo Medical Journal v.119 n.5 2001reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802001000500002info:eu-repo/semantics/openAccessOliveira,Allan Chiaratti deSantos,Amélia Miyashiro Nunes dosMartins,Ana MariaD'Almeida,Vâniaeng2001-11-27T00:00:00Zoai:scielo:S1516-31802001000500002Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2001-11-27T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
title Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
spellingShingle Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
Oliveira,Allan Chiaratti de
Inborn Errors of Metabolism
Inherited Metabolic Disorders
Newborns
Urinary Screening
title_short Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
title_full Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
title_fullStr Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
title_full_unstemmed Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
title_sort Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
author Oliveira,Allan Chiaratti de
author_facet Oliveira,Allan Chiaratti de
Santos,Amélia Miyashiro Nunes dos
Martins,Ana Maria
D'Almeida,Vânia
author_role author
author2 Santos,Amélia Miyashiro Nunes dos
Martins,Ana Maria
D'Almeida,Vânia
author2_role author
author
author
dc.contributor.author.fl_str_mv Oliveira,Allan Chiaratti de
Santos,Amélia Miyashiro Nunes dos
Martins,Ana Maria
D'Almeida,Vânia
dc.subject.por.fl_str_mv Inborn Errors of Metabolism
Inherited Metabolic Disorders
Newborns
Urinary Screening
topic Inborn Errors of Metabolism
Inherited Metabolic Disorders
Newborns
Urinary Screening
description CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hospital São Paulo, in an attempt to initiate support treatment, when available, before clinical manifestations become evident. DESIGN: Prospective study of risk patients. SETTING: Laboratory for Inborn Errors of Metabolism at the Center for Medical Genetics of the Departments of Pediatrics and Morphology of Universidade Federal de São Paulo/Escola Paulista de Medicina.Newborn care unit at a tertiary care hospital. PARTICIPANTS: 101 children admitted into the Neonatal Unit were included in this study by presenting hypoglycemia, metabolic acidosis, jaundice, difficulty in gaining weight, diarrhea, vomiting, hepato- and/or splenomegaly, cataracts, apnea, convulsions, hypo- or hypertonia. DIAGNOSTIC TESTS: Tests routinely utilized, performed for qualitative research of abnormal substances excreted in the urine in situations of metabolic disorder. RESULTS: Children were included in the study mainly because of presenting hypoglycemia, jaundice and metabolic acidosis. Sixty-four newborns presented at least one positive test result. Most of the positivity was due to transitory metabolic alterations of the newborn, such as the case of Transitory Neonatal Tyrosinemia, presented by 29 patients. Nine infants were referred to the Center for Medical Genetics of Universidade Federal de São Paulo for continuation of the diagnostic investigation. For three of them, the tests applied permitted us to formulate a diagnostic hypothesis of mucopolysaccharidosis, tyrosinemia type I and non-ketotic hyperglycinemia, respectively. CONCLUSIONS: The high positivity observed in the tests reflects the newborn's own metabolic immaturity. The selection of 9% of the studied cases for outpatient follow-up confirms that Inborn Errors of Metabolism must be suspected whenever a patient presents metabolic disturbances or neurological manifestations without a determined cause. They should be researched in parallel with the other diagnostic possibilities and not just taken to be exceptional diagnoses.
publishDate 2001
dc.date.none.fl_str_mv 2001-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000500002
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802001000500002
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1516-31802001000500002
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Paulista de Medicina - APM
publisher.none.fl_str_mv Associação Paulista de Medicina - APM
dc.source.none.fl_str_mv Sao Paulo Medical Journal v.119 n.5 2001
reponame:São Paulo medical journal (Online)
instname:Associação Paulista de Medicina
instacron:APM
instname_str Associação Paulista de Medicina
instacron_str APM
institution APM
reponame_str São Paulo medical journal (Online)
collection São Paulo medical journal (Online)
repository.name.fl_str_mv São Paulo medical journal (Online) - Associação Paulista de Medicina
repository.mail.fl_str_mv revistas@apm.org.br
_version_ 1754209260394250240