Galactosemia: Management and outcome
- V Reid Sutton, MD
V Reid Sutton, MD
- Professor of Molecular and Human Genetics
- Baylor College of Medicine
- Section Editors
- Sihoun Hahn, MD, PhD
Sihoun Hahn, MD, PhD
- Section Editor — Genetics
- Professor of Pediatrics
- University of Washington School of Medicine, Seattle Children's Hospital
- Elizabeth B Rand, MD
Elizabeth B Rand, MD
- Section Editor — Pediatric Hepatology
- Professor of Pediatrics
- University of Pennsylvania School of Medicine
Galactose is a sugar found primarily in human and bovine milk and milk products as part of the disaccharide lactose. Lactose is hydrolyzed to glucose and galactose by the intestinal enzyme lactase. The galactose then is converted to glucose for use as an energy source (figure 1). Free galactose also is present in some fruits and vegetables, such as tomatoes, Brussels sprouts, bananas, and apples. Altered metabolism of galactose caused by deficient enzyme activity or impaired liver function results in elevated blood galactose concentration and the condition known as galactosemia.
The UK Galactosaemia Steering Group has published recommendations for the management of galactosemia based on evidence and clinical experience . These recommendations, summarized below, should be tailored to the individual patient.
The management and outcome of galactosemia will be discussed here. The clinical features and diagnosis are discussed separately. (See "Galactosemia: Clinical features and diagnosis".)
Management overview — The main goal of long-term treatment of classic galactosemia is to minimize dietary galactose intake. Galactose should be excluded from the diet as soon as galactosemia is suspected.
Other initial care should be provided as needed to treat jaundice, sepsis, and abnormalities of the liver, kidneys, and central nervous system. Supportive therapy typically includes intravenous hydration, antibiotics, and treatment of coagulopathy, although problems usually resolve quickly after dietary treatment is begun.To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Walter JH, Collins JE, Leonard JV. Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group. Arch Dis Child 1999; 80:93.
- Acosta PB, Gross KC. Hidden sources of galactose in the environment. Eur J Pediatr 1995; 154:S87.
- Berry GT, Palmieri M, Gross KC, et al. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis 1993; 16:91.
- Van Calcar SC, Bernstein LE, Rohr FJ, et al. Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. J Agric Food Chem 2014; 62:1397.
- Hutchesson AC, Murdoch-Davis C, Green A, et al. Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations. J Inherit Metab Dis 1999; 22:139.
- Badawi N, Cahalane SF, McDonald M, et al. Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992. Ir Med J 1996; 89:16.
- Palmieri M, Mazur A, Berry GT, et al. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Metabolism 1999; 48:1294.
- Berry GT, Nissim I, Lin Z, et al. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 1995; 346:1073.
- Schadewaldt P, Kamalanathan L, Hammen HW, Wendel U. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab 2004; 81:31.
- Panis B, Gerver WJ, Rubio-Gozalbo ME. Growth in treated classical galactosemia patients. Eur J Pediatr 2007; 166:443.
- Rubio-Gozalbo ME, Panis B, Zimmermann LJ, et al. The endocrine system in treated patients with classical galactosemia. Mol Genet Metab 2006; 89:316.
- Fridovich-Keil JL, Gubbels CS, Spencer JB, et al. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis 2011; 34:357.
- Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 1990; 13:802.
- Kaufman FR, McBride-Chang C, Manis FR, et al. Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur J Pediatr 1995; 154:S2.
- Schweitzer S, Shin Y, Jakobs C, Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 1993; 152:36.
- Cleary MA, Heptinstall LE, Wraith JE, Walter JH. Galactosaemia: relationship of IQ to biochemical control and genotype. J Inherit Metab Dis 1995; 18:151.
- Antshel KM, Epstein IO, Waisbren SE. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 2004; 18:658.
- Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol 2005; 33:153.
- Hoffmann B, Wendel U, Schweitzer-Krantz S. Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis 2011; 34:421.
- Nelson CD, Waggoner DD, Donnell GN, et al. Verbal dyspraxia in treated galactosemia. Pediatrics 1991; 88:346.
- Pannbacker M. Management strategies for developmental apraxia of speech: a review of literature. J Commun Disord 1988; 21:363.
- Potter NL. Voice disorders in children with classic galactosemia. J Inherit Metab Dis 2011; 34:377.
- Schadewaldt P, Hoffmann B, Hammen HW, et al. Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics 2010; 125:e374.
- Hughes J, Ryan S, Lambert D, et al. Outcomes of siblings with classical galactosemia. J Pediatr 2009; 154:721.
- Kaufman FR, Donnell GN, Roe TF, Kogut MD. Gonadal function in patients with galactosaemia. J Inherit Metab Dis 1986; 9:140.
- Spencer JB, Badik JR, Ryan EL, et al. Modifiers of ovarian function in girls and women with classic galactosemia. J Clin Endocrinol Metab 2013; 98:E1257.
- Gibson JB. Gonadal function in galactosemics and in galactose-intoxicated animals. Eur J Pediatr 1995; 154:S14.
- Chen YT, Mattison DR, Feigenbaum L, et al. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science 1981; 214:1145.
- Guerrero NV, Singh RH, Manatunga A, et al. Risk factors for premature ovarian failure in females with galactosemia. J Pediatr 2000; 137:833.
- Noelmans L, Jacquemyn Y, De Naeyer S, Eyskens F. Pregnancy and galactosaemia. J Obstet Gynaecol 2006; 26:812.
- Widger J, O'Toole J, Geoghegan O, et al. Diet and visually significant cataracts in galactosaemia: is regular follow up necessary? J Inherit Metab Dis 2010; 33:129.
- Walter JH, Fridovich-Keil JL. Galactosemia. In: The Online Metabolic and Molecular Bases of Inherited Disease, Valle D, Beaudet AL, Vogelstein B, et al (Eds), 2014. http://ommbid.mhmedical.com/book.aspx?bookid=971 (Accessed on December 09, 2015).
- Ficicioglu C, Thomas N, Yager C, et al. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab 2008; 95:206.
- Powell KK, Van Naarden Braun K, Singh RH, et al. Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med 2009; 11:874.
- Openo KK, Schulz JM, Vargas CA, et al. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet 2006; 78:89.
- CLASSIC GALACTOSEMIA
- Management overview
- Nutritional therapy
- - Galactose restriction
- - Calcium supplements
- - Other nutrients
- - Biochemical status
- Endogenous galactose synthesis
- - Developmental status
- - Cataract detection
- - Growth
- - Ovarian function
- - Neurodevelopment
- - Ovarian failure
- - Cataracts
- DUARTE VARIANT
- GALACTOKINASE DEFICIENCY
- URIDINE DIPHOSPHATE GALACTOSE 4-EPIMERASE DEFICIENCY
- SUMMARY AND RECOMMENDATIONS