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Two sisters with transferase deficiency galactosaemia presented with hypergonadotropic hypogonadism. In the younger girl galactosaemia was documented first at 9 months of age, although she had never been exposed to exogenous galactose in utero or after birth.
A total of 123 patients with neonatal liver disease without extrahepatic bile duct obstruction or arteriohepatic dysplasia have been studied for six to 18 years. Idiopathic neonatal hepatitis, present in 73 babies, carried a high mortality due to liver failure (18%), septicaemia (6%), and associated defects (14%), especially in the first year of life (25%). Progression to chronic liver disease in non-familial idiopathic cases occurred in three of 40 reviewed patients. Only 12 of these children were completely healthy, the remainder having other permanent disabilities (57%). Four of nine familial cases of idiopathic neonatal hepatitis died in the first 12 months of life as did two of the four reviewed survivors. Progression to chronic liver disease or to death was a continuous process without any interval of recovery in all but one of these patients. Among patients with a presumed infective cause, cytomegalovirus infection caused a particularly benign form of neonatal hepatitis but was a frequent cause of brain damage or other disabilities. Babies who survived other infective liver diseases showed complete healing of the liver damage. Neonatal liver disease associated with alpha 1 antitrypsin deficiency progressed to death or chronic liver disease in three of nine patients and was not associated with a paucity of interlobular bile ducts.
A 4 week old infant who failed to thrive was found to have galactose in his urine. Plasma galactose concentration was grossly raised (4.48 mmol/l; reference range less than 0.24 mmol/l) but red cell transferase and epimerase activities were normal. He improved when dietary lactose was excluded. Clinical and biochemical tolerance to galactose was evident by 7 months of age.
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Ascertainment of cases of classical galactosaemia over a three year period in the UK and the Republic of Ireland, through the British Paediatric Surveillance Unit, identified 58 proved cases and two in whom the diagnosis was strongly suspected. One patient died at 4 days, and severe morbidity was no more frequent in babies diagnosed clinically because of their symptoms compared with those who were screened for galactosaemia. Treatment of four babies in the non-screened group was delayed until after 5 weeks of age, but it is concluded that all cases of galactosaemia could be diagnosed in an acceptable time without screening, providing clinical vigilance is maintained.
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The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development.
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AIMS: To evaluate the cognitive outcome of a cohort of children with galactosaemia in relation to genotype. METHODS: The cohort was drawn from children notified to the British Paediatric Surveillance Unit galactosaemia study which ran from 1988 to 1990. Cognitive outcome was assessed using the Wechsler Intelligence Scale for Children or the Wechsler Preschool and Primary Scale of Intelligence. Parents completed a questionnaire detailing educational status, and the attending paediatrician returned a questionnaire regarding age at diagnosis and biochemical outcome over the previous two years. RESULTS: A total of 45 children were genotyped: 30 were homoallelic for the Q188R mutation, the remainder being heteroallelic for Q188R with K285N (n = 4), L195P (n = 4), or other mutations (n = 7). Psychometric evaluation was available in 34 cases: mean full scale IQ was 79, verbal quotient 79, and performance quotient 82. Genotype was not related to galactose-1-phosphate (Gal-1-P) concentrations. However, children homoallelic for the Q188R mutation had significantly lower IQ scores than those who were heteroallelic (73. 6 v 94.8). This difference was independent of social and demographic influences and Gal-1-P concentrations over the previous two years. CONCLUSIONS: In children with galactosaemia, cognitive outcome appears to relate to genotype rather than metabolic control, as reflected by Gal-1-P concentrations. The value of measuring Gal-1-P concentrations routinely once successfully established on a galactosaemia diet is questionable as concentrations do not appear to affect outcome. In the UK population, homozygosity for the Q188R mutation is invariably associated with a poor outcome, and there is evidence that variability in neurocognitive outcome is at least part dependent on allelic heterogeneity.
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BACKGROUND: Diminished bone mineral density (BMD) is a well known complication in women with classic galactosaemia caused by premature ovarian failure. Diminished BMD in prepubertal patients of either sex has, however, only been reported once. AIM: To assess BMD in children with classic galactosaemia. METHODS: Eleven treated patients (five males, six females, aged 2-18 years) had BMD determined by dual energy x ray absorptiometry. Two measurements were performed, an areal measurement of the total body and a volumetric measurement of the femoral neck. Results were expressed as Z scores. Dietary calcium intake, blood calcium, phosphate, vitamin D, parathormone, and markers of bone formation (bone alkaline phosphatase, osteocalcin) and bone resorption (NTX) were determined. RESULTS: All patients had a significantly diminished BMD. Mean Z score of the volumetric BMD was -1.76 (range -0.7 to -3.3), and of the areal BMD -0.99 (range -0.5 to -1.4). Dietary calcium intake and calcium, phosphate, parathormone, bone alkaline phosphatase, vitamin D metabolites, and osteocalcin (free and carboxylated) were normal in all patients. NTX levels in blood were significantly lower (p < 0.001) than in control subjects. CONCLUSION: BMD in this group of children of both sexes with classic galactosaemia under dietary treatment was decreased. Lower NTX levels in galactosaemics point to an apparent decreased bone resorption.
Five hundred patients undergoing cataract surgery were prospectively examined, and 46 Caucasian patients were found to have strictly idiopathic cataracts severe enough to warrant surgery on or before age 55. In a masked fashion we determined the activity of galactokinase (GK) and galactose-1-phosphate uridyl transferase (GPUT) in these patients as well as on 53 age matched controls. With respect to GK no cataract patient had an enzyme level of less than 2 standard deviations below the control mean. However, 3 of 45 (6.7%) patients in the cataract group had a GPUT level less than 2 standard deviations below the mean for controls, and were presumably heterozygotes for this enzyme. In comparison with the expected population rate of 0.8% this is highly significant (p = 0.006). Abnormalities in galactose pathway enzymes may therefore predispose to development of presenile cataracts. In affected people there is a possibility of treating these patients clinically by dietary restriction of dairy products or by using aldose reductase inhibitors to prevent or reverse cataract formation.
Thirty three children with classical galactosaemia diagnosed through newborn screening are considered. It is concluded that cataract formation has a direct relationship with poor dietary control. Erythrocyte galactose-1-phosphate (Gal-1-P) levels do not correspond to cataract formation unless many times higher than normal. The value of crystalline lens biomicroscopy is confirmed as a useful method for monitoring the dietary and biochemical control in classical galactosaemia.
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