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Growth in Treated Classical Galactosemia Patients« Back to Volume 23, Issue 3, November 2007 - Table of Contents Panis and co-workers studied height and weight growth over a period of 2 years in a group of 40 Dutch children and adolescents with classical galactosemia. These subjects (13 boys, 27 girls, median age 7.8 years, range 3 to 17 years) had the diagnosis established in the neonatal period by galactose-1-phosphate-uridyltransferase (GALT) and enzymatic studies in erythrocytes. Of the 40 subjects, 31 were prepubertal, and 5 had reached Tanner stage 5. Urinary galactose and galactitol concentrations and GALT levels in the erythrocytes were measured during the study and all were within the range of treated patients. Prenatal growth was evaluated by obtaining length, weight, and head circumference data from infant welfare centers or from parents. The results, corrected for gestational age, were within normal limits for the Dutch population. Yearly, for 2 successive years, postnatal growth was evaluated by z-scores and corrected for target age. Mean height growth velocity was 0.87±1.2 (range −0.4 to 3.6) for boys and −0.89±2.1 (range −2.5 to 3.7, p=0.047) for girls. Weight growth velocity in z-scores was 0.91±1.6 (range −0.8 to 4.2) for boys and −0.74±1.3 (range −3.1 to 2.3, p=0.008) for girls. Mean height in z-scores corrected for target height z-scores was decreased in both genders with girls being more affected than boys. Height velocities were correlated with insulin like growth factor (IGF)-I and IGF binding protein (IGFBP)-3 z-scores and with the height z-scores corrected for target. The authors affirmed normal prenatal growth in boys and girls with galactosemia, but decreased height and weight growth velocities. In addition they stated that predicted final height was less than target height in most patients after birth. The authors’ review of the literature suggested a variety of variable findings in at least 3 other studies, some showed decreased height-for-age but final height within normal limits,1 microcephaly,2 and reduced birth weight in affected neonates.3 The authors speculated that possible risk factors for abnormal growth include either intrinsic or diet-related factors, decreased mean IGF-I and IGFBP-3 concentrations and/or hormonal factors. Panis B, Gerver W, Rubio-Gozalbo ME. Growth in treated classical galactosemia patients. Eur J Pediatr. 2007;166:443-6. Editor’s CommentGalactosemia may be a more common finding in genetics clinics than in endocrine clinics. The growth data which Panis reported in a large group of children with classical galactosemia would not usually result in a referral to a pediatric endocrinologist for evaluation. It would have been interesting had these investigators provided a little more information especially in regard to how they determined predicted adult height. There is no mention of bone ages being performed in these individuals. It is easy to speculate that girls with galactosemia and ovarian dysfunction would most likely have lower height z-scores than the normal population. Despite its shortcomings, this paper presented important information which suggests when children with classical galactosemia are evaluated in either genetics or metabolic clinics, there should not be an expectation for short stature or failure to thrive, at least when the diet is followed consistently. Thus short children with classical galactosemia should be evaluated thoroughly for other hormonal causes of growth failure. William L. Clarke, MD References - (linked to
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Volume 24 Number 1
May 2008
www.GGHjournal.com
ISSN 1932-9032
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