galactosemias/uppköst

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[Sepsis due to E. coli in newborns with galactose intolerance (author's transl)].

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The authors report on a case of sepsis due to E. coli in a newborn baby with galactose intolerance. The immature immunological state of the newborn child in combination with a disorder of galactose metabolism obviously favour the development of bacterial infections. Galactose-free formulas should be

Galactosemia presenting as recurrent sepsis.

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Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic

The molecular basis of transferase galactosaemia in South African negroids.

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Transferase galactosaemia is an autosomal recessively inherited disorder caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Manifestations include jaundice, vomiting, cataracts, mental retardation, speech abnormalities and poor growth. The GALT gene has been mapped and

[Galactosemia of early diagnosis with psychomotor retardation].

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The case history of a baby girl suffering galactosemia is described. This was due to a deficit of galactose-1-phosphate uridyl transferase, with symptoms during the neonatal period consisting in weight loss, vomiting, jaundice and bleeding syndrome. From the twelfth day of life, a strict diet

Galactosemia: clinical features, diagnosis and management. A case report.

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The case report and discussion presented here were prepared in response to legislation in Louisiana which requires that the Dept of Health and Hospitals establish a program to inform physicians and hospitals of the current medical standards for the diagnosis, clinical management, and recognition of

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.

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Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and

Classic galactosemia presenting with unilateral Peters' anomaly.

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OBJECTIVE To report a case of classic galactosemia that presented with a rare ocular finding, Peters' anomaly. METHODS A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye.

Galactosaemia: case for neonatal screening illustrated by recent Australian experience.

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The varied presentation and clinical features of classical galactosaemia are illustrated by the case histories of seven babies born in Western Australia since January, 1962, and of two babies born in South Australia in whom diagnosis was made as a result of adding galactosaemia to the Guthrie

The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran.

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BACKGROUND The aim of the study was to research concerning the epidemiology of newborns' galactosemia during 2007-2008 to find out whether screening was necessary for Iranian newborns or not and also what the symptoms of this disease before or after diet were. METHODS The data were collected from

Galactosemia and amenorrhea in the adolescent.

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Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity (OMIM 606999). Acute manifestations occur in the neonatal period and are, with rare exceptions, related to lactose ingestion. They include poor feeding and

[Diet treatment of classical galactosemia].

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Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the

Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

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Classical galactosemia is an autosomal recessive disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. Undoubtedly, some of the short term complications are linked to the toxic effects of the accumulated abnormal metabolites (galactose-1-phosphate and galactitol).

Literature review and outcome of classic galactosemia diagnosed in the neonatal period.

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BACKGROUND The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period. METHODS A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a tertiary neonatal intensive care unit from January 2005

Late haemorrhagic disease of the newborn.

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BACKGROUND Late haemorrhagic disease of the newborn (HDN) can occur owing to a lack of vitamin K prophylaxis, as a manifestation of an underlying disorder or idiopatically from the 8th day to 12 weeks after birth. METHODS Eight infants admitted to Kocaeli University Hospital with nine episodes of

Mutational analysis of the GALT gene in Filipino patients.

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Classic galactosemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. This study describes the results of the GALT gene analysis of four unrelated Filipino patients with Classic Galactosemia. DNA extracted from dried blood spots and

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