title: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
abstract: Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long-term complications including cognitive disability, speech problems, neurological and/or movement disorders and, in girls and women, ovarian dysfunction. Further, there remains uncertainty surrounding what constitutes a 'best practice' for treating this disorder. To explore the extent and implications of this uncertainty, we conducted a small but global survey of healthcare providers who follow patients with classic galactosemia, seeking to compare established protocols for diagnosis, intervention, and follow-up, as well as the outcomes and outcome frequencies seen in the patient populations cared for by these providers. We received 13 survey responses representing five continents and 11 countries. Respondents underscored disparities in approaches to diagnosis, management and follow-up care. Notably, we saw no clear relationship between differing approaches to care and long-term outcomes in the populations studied. Negative outcomes occurred in the majority of cases regardless of when treatment was initiated, how tightly galactose intake was restricted, or how closely patients were monitored. We document here what is, to our knowledge, the first global comparison of healthcare approaches to classic galactosemia. These data reinforce the idea that there is currently no one best practice for treating patients with classic galactosemia, and underscore the need for more extensive and statistically powerful comparative studies to reveal potential positive or negative impacts of differing approaches.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Rm. 325.2 Whitehead Bldg, 615 Michael St, Atlanta, GA 30322, USA.
authors.forename: Patricia P
authors.initials: PP
authors.lastname: Jumbo-Lucioni
authors.forename: Kathryn
authors.initials: K
authors.lastname: Garber
authors.forename: John
authors.initials: J
authors.lastname: Kiel
authors.forename: Ivo
authors.initials: I
authors.lastname: Baric
authors.forename: Gerard T
authors.initials: GT
authors.lastname: Berry
authors.forename: Annet
authors.initials: A
authors.lastname: Bosch
authors.forename: Alberto
authors.initials: A
authors.lastname: Burlina
authors.forename: Ana
authors.initials: A
authors.lastname: Chiesa
authors.forename: Maria Luz Couce
authors.initials: ML
authors.lastname: Pico
authors.forename: Sylvia C
authors.initials: SC
authors.lastname: Estrada
authors.forename: Howard
authors.initials: H
authors.lastname: Henderson
authors.forename: Nancy
authors.initials: N
authors.lastname: Leslie
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
authors.forename: Andrew A M
authors.initials: AA
authors.lastname: Morris
authors.forename: Carlett
authors.initials: C
authors.lastname: Ramirez-Farias
authors.forename: Susanne
authors.initials: S
authors.lastname: Schweitzer-Krantz
authors.forename: Susanne
authors.initials: S
authors.lastname: Scheweitzer-Krantz
authors.forename: Catherine Lynn T
authors.initials: CL
authors.lastname: Silao
authors.forename: Marcela
authors.initials: M
authors.lastname: Vela-Amieva
authors.forename: Susan
authors.initials: S
authors.lastname: Waisbren
authors.forename: Judith L
authors.initials: JL
authors.lastname: Fridovich-Keil
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003072:Cognition Disorders / Q000209:etiology; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D005260:Female; D005690:Galactose / Q000008:administration & dosage; D005693:Galactosemias / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D038622:Internationality; D008297:Male; D015997:Neonatal Screening; D010049:Ovarian Diseases / Q000209:etiology; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
chemical_list: D004040:Dietary Carbohydrates; D005690:Galactose