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Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome.
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A case of galactosaemia with special reference to mental development.
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The amino-aciduria in galactosaemia.
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A study of the genetics of galactosaemia.
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A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion.
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The treatment of congenital galactosaemia.
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The value of galactose phosphate determinations in the treatment of galactosaemia.
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The genetic mechanism of galactosaemia.
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A case of galactosaemia with the pathological and neuropathological findings.
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Long-term follow-up of galactosaemia.
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Suspending agents in medicaments as possible sources of galactose to galactosaemic child.
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Lactose absorption and mucosal disaccharidases in convalescent pellagra and kwashiorkor children.
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Galactokinase deficiency in a newborn infant.
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Experience of routine live-birth screening for galactosaemia in a British hospital, with emphasis on heterozygote detection.
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Diagnosis of classical galactosaemia.
We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.
Studies of the aetiology of neonatal hepatitis and biliary atresia.
Aetiological factors were sought prospectively in 55 babies with extrahepatic biliary atresia, in 105 with neonatal hepatitis, and in 11 with intrahepatic biliary atresia, seen as a result of nearly complete ascertainment of these conditions in the State of Victoria between 1963 and 1974. In neonatal hepatitis infective causes were shown in 22 babies, galactosaemia in 6 and alpha1-antitrypsin deficiency in 8; familial occurrence was noted in 10 further babies and unrelated second diseases were present in 24 of the remaining 59 babies. The only clues to aetiology in extrahepatic biliary atresia were a suspicion of time-space clusters, a deficiency of affected babies born to young primiparous women, and an unexpected number of spontaneous abortions in the histories given by the mothers. Genetic factors appeared to be important in intrahepatic biliary atresia, but are not reported in detail. Hypotheses for the aetiology of neonatal hepatitis and of extrahepatic biliary atresia are presented. Both are considered syndromes with multiple causes. Recurrence risks in sibs are discussed, and are 1 in 7 for neonatal hepatitis of unknown cause, negligible in extrahepatic biliary atresia, and usually 1 in 2 or 1 in 4 in intrahepatic biliary atresia, depending upon the family history.
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides.