The early detection and management of inborn errors presenting acutely in the neonatal period

Jv, Leonard

doi:10.1007/bf00442296

Cited by 10 publications

(4 citation statements)

References 32 publications

(25 reference statements)

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“…Five autosomal recessive disorders and one X-linked disorder of the urea cycle have been identified, with an estimated prevalence of 1 in 30,000 to 40,000 live births. [1][2][3][4][5][6][7][8][9][10][11][12][13] Together, they are the most common cause of neonatal hyperammonemia.…”

mentioning

confidence: 99%

“…2,3,[14][15][16][17] Other metabolic pathways provide alternative methods of nitrogen removal independent of urea formation. Administered sodium benzoate conjugates with glycine to form hippuric acid, which is readily cleared by the kidneys.…”

mentioning

confidence: 99%

“…The most efficient removal of ammonia has been demonstrated with the use of renal replacement therapies. 2,17,[20][21][22][23][24][25][26][27][28][29][30][31] However, the effects of renal replacement therapy on the amino acids involved in ammoniagenesis and the alternative pathways of nitrogen excretion are unknown. Given that renal replacement modalities are known to have variable clearance of amino acids, 32,33 we hypothesized that dialytic clearances of various amino acids involved in the development of hyperammonemia and in the alternative pathway excretion of nitrogen could affect the management of urea cycle defects.…”

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confidence: 99%

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Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency

McBryde

Kudelka

Kershaw

et al. 2004

The Journal of Pediatrics

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confidence: 99%

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Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency

McBryde

Kudelka

Kershaw

et al. 2004

The Journal of Pediatrics

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“…Diversos trabalhos têm apontado as principais características clínicas e laboratoriais que levam à suspeita de um EIM em crianças com quadros agudos, bem como a melhor maneira de investigá-los 9,[11][12][13][14][15][16][17][18][19][20] . Os sintomas típicos incluem letargia, coma, convulsões, recusa alimentar, apnéia ou taquipnéia e vômitos recorrentes.…”

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Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children

Sanseverino¹,

Wajner²,

Giugliani³

2000

J Pediatr (Rio J)

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ResumoObjetivo: O objetivo deste trabalho foi aplicar um protocolo para a investigação de Erros Inatos do Metabolismo (EIM) em crianças gravemente enfermas.Métodos: Trata-se de um estudo transversal envolvendo 46 crianças com suspeita de um distúrbio metabólico, selecionadas, ao longo de dois anos, a partir de solicitações de investigação de EIM procedentes de Unidades de Tratamento Intensivo pediátricas ou neonatais da região metropolitana de Porto Alegre. Foram incluídos pacientes que apresentavam uma ou mais das seguintes alterações clínicas, sem etiologia definida: acidose metabólica, desequilíbrio hidroeletrolítico, hipoglicemia, convulsões, alteração de consciência, alteração hepática ou história familiar sugestiva de um EIM. O protocolo constou de avaliação clínica, testes obrigatórios (realizados em todos os pacientes) e testes opcionais (realizados seletivamente de acordo com o resultado dos primeiros ou a partir de uma hipótese clínica específica).Resultados: Foram identificados 6 casos de EIM nos 46 pacientes investigados (13%): galactosemia clássica, hiperglicinemia não cetótica, acidúria propiônica, acidúria isovalérica, acidúria 3hidroxi-3-metil-glutárica e deficiência de 2-metil-acetoacetilCoA tiolase. Assim, a freqüência de acidúrias orgânicas neste grupo foi de 4/46 (8,7%).Conclusões: A freqüência de acidúrias orgânicas justifica a inclusão da pesquisa de ácidos orgânicos entre os exames de primeira linha nas crianças com quadros agudos e graves sem etiologia definitiva. A freqüência relativamente elevada de EIM, numa proporção comparável à observada em outros estudos em grupos de alto risco, indica que o protocolo é eficiente e justifica a investigação sistemática de EIM em crianças com quadros agudos e graves sem etiologia claramente definida.J. pediatr. (Rio J.). 2000; 76(5):375-382: erros inatos de metabolismo, acidúrias orgânicas, aminoacidopatias, hiperamonemia, galactosemia. AbstractObjective: The aim of this work was to evaluate a protocol for investigation of Inborn Errors of Metabolism (IEM) in children who are acutely ill.Methods: Forty six children with clinical suspicion of a metabolic disorder were studied during 2 years. They were selected through request for investigation of IEM from Pediatrics or Neonatal Intensive Care Units located in the metropolitan area of Porto Alegre. Criteria for inclusion were presence of one or more of the following clinical alterations, without defined etiology: Metabolic acidosis, electrolyte disturbances, hypoglycemia, seizures, lethargy, liver disfunction, family history suggestive of IEM. The protocol included clinical evaluation, compulsory tests (performed in all patients) and optional tests (performed selectively according to the results from the first tests or through specific clinical hypothesis).Results: Six cases of IEM were identified: galactosemia, nonketotic hyperglycinaemia, propionic acidemia, isovaleric acidemia, 3-hydroxy-3-methylglutaric acidemia and deficiency of 3ketothiolase deficiency.Conclusions: The frequency of organic aciduri...

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Acute Metabolic Encephalopathy: A Review of Causes, Mechanisms and Treatment

Surtees¹,

Leonard²

1989

Studies in Inherited Metabolic Disease

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The early detection and management of inborn errors presenting acutely in the neonatal period

Cited by 10 publications

References 32 publications

Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency

Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency

Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children

Acute Metabolic Encephalopathy: A Review of Causes, Mechanisms and Treatment

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