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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
[Galactose loading test in infants and small children suffering in recurrent bronchitis and other chronic illness (author's transl)].
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The authors performed galactose loading tests in children suffering from chronic diseases: recurrent bronchitis vomiting, diarrhoea, milk-intolerance, somatic and mental retardation, cramps. In 32 of the 92 examined cases galactose levels rose until pathological, pseudo- diabetic levels. Stillbirth,
Literature review on congenital glucose-galactose malabsorption from 2001 to 2019
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Aim: Congenital glucose-galactose malabsorption (CGGM) is a rare disease characterised by severe diarrhoea, dehydration and weight loss. To better understand CGGM, we investigated all the case reports and series of CGGM from 2001 to
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
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
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
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
Urinary Metabolomic Profile of Preterm Infants Receiving Human Milk with Either Bovine or Donkey Milk-Based Fortifiers
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Fortification of human milk (HM) for preterm and very low-birth weight (VLBW) infants is a standard practice in most neonatal intensive care units. The optimal fortification strategy and the most suitable protein source for achieving better tolerance and growth rates for fortified infants are still
Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta.
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A male child presented at 5 months of age with vomiting, diarrhoea, hypoglycaemia and hepatomegaly. Histology on a frozen liver biopsy suggested glycogen storage disease (GSD), while biochemical analyses confirmed an elevated glycogen content and normal activities of the GSD enzymes with the proviso
Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome.
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Fanconi-Bickel syndrome is a rare inherited disease characterized by the combination of hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. The first symptoms of the disorder are recognized in late infancy as clinical
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