Identification of newborns with galactosemia based on altered amino acids profile in the metabolic newborn screening

Marcão, Ana; Carvalho, Ivone; Sousa, Carmen; Fonseca, Helena; Rocha, Hugo; Lopes, Lurdes; Neiva, Raquel; Vilarinho, Laura

Publication

Identification of newborns with galactosemia based on altered amino acids profile in the metabolic newborn screening

2018-03-15Conference object

dc.contributor.author	Marcão, Ana
dc.contributor.author	Carvalho, Ivone
dc.contributor.author	Sousa, Carmen
dc.contributor.author	Fonseca, Helena
dc.contributor.author	Rocha, Hugo
dc.contributor.author	Lopes, Lurdes
dc.contributor.author	Neiva, Raquel
dc.contributor.author	Vilarinho, Laura
dc.date.accessioned	2018-04-02T14:53:41Z
dc.date.available	2018-04-02T14:53:41Z
dc.date.issued	2018-03-15
dc.description.abstract	Classic galactosemia (CG) is an autosomal recessive disorder caused by deficient activity of galactose-1-phosphate uridyltransferase (GALT). Clinically, this pathology presents in the neonatal period, with acute manifestations following milk intake, and is often fatal during infancy. Galactose restricted diet, the only currently available therapeutic strategy, can prevent or resolve the acute symptoms, but it is ineffective in preventing long-term complications, even in the cases with early identification and treatment. This pathology is frequently included in newborn screening (NBS) programs; nevertheless the risks and benefits of this screening are not sufficiently evaluated and its inclusion in NBS panels is not consensual. In Europe, it is only included in a minority of programs, while it is performed in all states of US. The Portuguese NBS program doesn’t include CG screening; however, several cases have been identified due to increased values of phenylalanine or, since the introduction of mass spectrometry analysis in 2004, due to the combination of increased values of phenylalanine and tyrosine or methionine in the metabolic screening. These three amino acids are markers of four different metabolic diseases, included in the Portuguese NBS panel, namely, phenylketonuria, tyrosinemia, classical homocystinuria and methionine adenosyltransferase I/III deficiency. Their combined increase is suggestive of galactosemia and, as differential diagnosis, in these cases total galactose is determined in the NBS sample. If an increased value of total galactose is found, these results are urgently reported to the metabolic center closer to the parents’ house. Since 2004, from the 1 016 168 newborns included in expanded NBS, eighteen positive cases for CG come to our knowledge, but only eight of this cases presented NBS results suggestive of CG. With the available data it wasn’t possible to establish any correlation between the NBS result and the sampling day or the specific mutations found in each case.	pt_PT
dc.description.version	N/A	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/5518
dc.language.iso	eng	pt_PT
dc.publisher	Instituto Nacional de Saúde Doutor Ricardo Jorge, IP	pt_PT
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/	pt_PT
dc.subject	Newborn Screening	pt_PT
dc.subject	Galactosemia	pt_PT
dc.subject	Doenças Genéticas	pt_PT
dc.title	Identification of newborns with galactosemia based on altered amino acids profile in the metabolic newborn screening	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Porto, Portugal	pt_PT
oaire.citation.title	14th International Symposium of the Portuguese Society for Metabolic Disorders, 15t-17 March 2018	pt_PT
rcaap.rights	openAccess	pt_PT
rcaap.type	conferenceObject	pt_PT