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A Multinational Study of Acute and Long‐Term Outcomes of Type 1 Galactosemia Patients Who Carry the S135L (c.404C > T) Variant of GALT

2022-11Journal article Open access
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dc.contributor.authorKatler, Q
dc.contributor.authorStepien, K
dc.contributor.authorPaull, N
dc.contributor.authorPatel, S
dc.contributor.authorAdams, M
dc.contributor.authorBalci, M
dc.contributor.authorBerry, G
dc.contributor.authorBosch, A
dc.contributor.authorDeLaO, A
dc.contributor.authorDemirbas, D
dc.contributor.authorEdman, J
dc.contributor.authorFicicioglu, C
dc.contributor.authorGoff, M
dc.contributor.authorHacker, S
dc.contributor.authorKnerr, I
dc.contributor.authorLancaster, K
dc.contributor.authorLi, H
dc.contributor.authorMendelsohn, B
dc.contributor.authorNichols, B
dc.contributor.authorRezende Pinto, W
dc.contributor.authorCésar Rocha, J
dc.contributor.authorRubio‐Gozalbo, ME
dc.contributor.authorSaad‐Naguib, M
dc.contributor.authorScholl‐Buergi, S
dc.contributor.authorSearcy, S
dc.contributor.authorSouza, P
dc.contributor.authorWittenauer, A
dc.contributor.authorFridovich‐Keil, J
dc.date.accessioned2023-10-09T14:32:54Z
dc.date.available2023-10-09T14:32:54Z
dc.date.issued2022-11
dc.description.abstractPatients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and long-term outcomes of 12 patients homozygous for S135L, 25 patients compound heterozygous for S135L, and 105 patients homozygous for two GALT-null (G) alleles. This is the largest cohort of S135L patients characterized to date. Acute disease following milk exposure in the newborn period was common among patients in all 3 comparison groups in our study, as were long-term complications in the domains of speech, cognition, and motor outcomes. In contrast, while at least 80% of both GALT-null and S135L compound heterozygous girls and women showed evidence of an adverse ovarian outcome, prevalence was only 25% among S135L homozygotes. Further, all young women in this study with even one copy of S135L achieved spontaneous menarche; this is true for only about 33% of women with classic galactosemia. Overall, we observed that while most long-term outcomes trended milder among groups of patients with even one copy of S135L, many individual patients, either homozygous or compound heterozygous for S135L, nonetheless experienced long-term outcomes that were not mild. This was true despite detection by newborn screening and both early and life-long dietary restriction of galactose. This information should empower more evidence-based counseling for galactosemia patients with S135L.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Inherit Metab Dis . 2022 Nov;45(6):1106-1117.pt_PT
dc.identifier.doi10.1002/jimd.12556pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4715
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectHCC ENDpt_PT
dc.subjectHumanspt_PT
dc.subjectFemalept_PT
dc.subjectAllelespt_PT
dc.subjectGalactosept_PT
dc.subjectGalactosemias* / diagnosispt_PT
dc.subjectGalactosemias* / geneticspt_PT
dc.subjectHomozygotept_PT
dc.subjectInfant, Newbornpt_PT
dc.subjectUTP-Hexose-1-Phosphate Uridylyltransferase / geneticspt_PT
dc.titleA Multinational Study of Acute and Long‐Term Outcomes of Type 1 Galactosemia Patients Who Carry the S135L (c.404C > T) Variant of GALTpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1117pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage1106pt_PT
oaire.citation.titleJournal of Inherited Metabolic Diseasept_PT
oaire.citation.volume45pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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