These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases for more information see our section General Data Protection Regulation and data privacy GDPR and Confidentiality. A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected. When ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage jaundice, bleeding tendency, hypoglycemia. In the absence of appropriate treatment galactose restriction , sepsis E-coli and neonatal death may occur.
Despite adequate treatment, long-term complications appear including cognitive impairments, motor deficits, ovarian dysfunction with reduced fertility in women and diminished bone density. Male fertility has not yet been thoroughly studied.
Classic galactosemia is caused by mutations in the GALT 9p13 gene encoding the galactosephosphate uridyltransferase enzyme. Mutations that severely impair enzyme activity result in the classic galactosemia phenotype. The so-called variants are mutations associated with higher residual enzyme activity resulting in milder or no features of galactosemia such as the Duarte variant GALT gene mutation. In many countries, infants are routinely screened for galactosemia at birth. When neonatal screening is not performed, diagnosis is based on the clinical picture.
Ovarian failure Almost all females with severe or classic galactosemia develop premature ovarian insufficiency POI, a condition in which the ovaries stop releasing eggs earlier than normal.
Although the exact cause is not known, it is believed that galactose or its byproduct may be toxic to the ovaries. Most females are unable to have children as a result of this premature loss of ovarian function, which resembles early menopause. The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.
Kevin B. Churchwell, President and CEO. Connect with Boston Children's Hospital. The considerable genetic heterogeneity documented to date undoubtedly contributes to the phenotypic heterogeneity that is observed in galactosemia. The additional effects of nonallelic variation and other constitutional factors on phenotypic variability remain to be elucidated.
Abstract Classical galactosemia is caused by a deficiency in activity of the enzyme galactosephosphate uridyl transferase GALT , which, in turn, is caused by mutations at the GALT gene. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete. Rare polymorphisms exist that could lead to false-negative or false-positive results.
If results obtained do not match the clinical findings, additional testing should be considered. Many disorders may present with symptoms similar to those associated with galactosemia. Therefore, biochemical testing is recommended to establish the diagnosis of galactosemia prior to DNA analysis. Pediatrics Sep; 3 :e Novelli G, Reichardt JK: Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab Sep-Oct;71 Skip to main content.
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