Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Honeyman, M M; Green, A; Holton, John; Leonard, James V.

doi:10.1136/adc.69.3.339

Cited by 49 publications

(30 citation statements)

References 6 publications

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“…When the incidence figures were broken down for the Traveller and non-Traveller population groups, the incidences were estimated to be 1 in 480 and 1 in 30 000 respectively. The incidence estimated for the nonTraveller community is comparable with the figures of 1 in 41 938 and 1 in 44 000 previously reported for the German and UK populations, 13,26 but the value of 1 in 480 estimated for the Traveller community is one of the highest incidences of transferase-deficient galactosaemia yet reported. 13 Among the Traveller group, Q188R was found to be the sole GALT mutation (Table 2b), whilst among nonTravellers it accounted for 89.1% of mutant alleles.…”

Section: Discussionsupporting

confidence: 86%

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

et al. 1999

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Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-phosphate uridyltransferase (GALT), is relatively common among the Travellers, an endogamous group of commercial/industrial nomads within the Irish population. This study has estimated the incidence of classical transferase-deficient galactosaemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group. Based upon a survey of newborn screening records, the incidence of classical transferase-deficient galactosaemia was estimated to be 1 in 480 and 1 in 30 000 among the Traveller and nonTraveller communities respectively. Fifty-six classical galactosaemic patients were screened for mutation in the GALT locus by standard molecular methods. Q188R was the sole mutant allele among the Travellers and the majority mutant allele among the non-Travellers (89.1%). Of the five non-Q188R mutant alleles in the non-Traveller group, one was R333G and one F194L with three remaining uncharacterised. Anonymous population screening has shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a Sac I RFLP flanking exon 6 of the GALT gene. This represents the first molecular genetic description of classical transferase-deficient galactosaemia in Ireland and raises intriguing questions concerning the genetic history of the Irish Travellers.

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Section: Discussionsupporting

confidence: 86%

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

et al. 1999

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“…Galactose-free diet should be started in NLF, until the result of quantitative assay of erythrocyte galactose-1-phosphate uridyltransferase enzyme activity is available. Even with strict dietary restriction, affected children are prone to have progressive decline in intelligent quotient, speech problems, ataxia and ovarian failure, due to endogenous galactose production from glucose [14,20]. Tyrosinaemia type 1 is due to the absence of the enzyme fumaryl acetoacetase.…”

Section: Metabolic Diseasesmentioning

confidence: 99%

Neonatal liver failure: aetiologies and management—state of the art

et al. 2010

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Acute liver failure in neonates is rare, but carries a high mortality. Neonatal liver failure can be defined as "failure of the synthetic function of liver within 4 weeks of birth". Encephalopathy is not essential for the diagnosis. Acute liver failure in neonates differs from children with regard to aetiology and outcome. Common causes of neonatal liver failure are neonatal hemochromatosis, haematological malignancies, viral infections and liver-based metabolic defects. Early diagnosis and referral to a paediatric liver centre is recommended as liver transplantation is the only definitive treatment when supportive or a disease-specific treatment fails.

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“…Several European countries (e.g. Great Britain [12], Norway, The Netherlands, Poland [19]) and some states of the USA do not screen for galactosaemia mainly based on the anticipated early manifestations of clinical symptoms by the age of 3-4 days before screening is performed and due to the low incidence (1:40,000 in Caucasian populations) and therefore relatively high costs. The number of undiagnosed cases is not known in these countries, but clinical awareness is said to be high [12].…”

Section: Introductionmentioning

confidence: 99%

Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia

Schweitzer-Krantz

2003

European Journal of Pediatrics

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Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Cited by 49 publications

References 6 publications

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

Neonatal liver failure: aetiologies and management—state of the art

Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia

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