title: Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
abstract: Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis, we suggest DNA analysis should be performed whenever possible.
authors.affiliation: Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
authors.forename: Taciane
authors.initials: T
authors.lastname: Alegra
authors.affiliation: Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil ; School of Medicine, UFRGS, Brazil.
authors.forename: Tiago
authors.initials: T
authors.lastname: Koppe
authors.affiliation: Medical Genetics Service, Complexo Hospitalar Universitário Professor Edgard Santos, Brazil ; Department of Pediatrics, School of Medicine, Universidade Federal da Bahia (UFBA), Salvador, Brazil.
authors.forename: Angelina
authors.initials: A
authors.lastname: Acosta
authors.affiliation: Department of Gynecology and Obstetrics, School of Medicine, UFBA, Salvador, Brazil.
authors.forename: Manoel
authors.initials: M
authors.lastname: Sarno
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
authors.forename: Maira
authors.initials: M
authors.lastname: Burin
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
authors.forename: Rejane Gus
authors.initials: RG
authors.lastname: Kessler
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil ; Gene Therapy Center, HCPA, Porto Alegre, Brazil ; BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, HCPA, Porto Alegre, Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Sperb-Ludwig
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil ; Gene Therapy Center, HCPA, Porto Alegre, Brazil.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Cury
authors.affiliation: Gene Therapy Center, HCPA, Porto Alegre, Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Baldo
authors.affiliation: Gene Therapy Center, HCPA, Porto Alegre, Brazil.
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil ; Department of Genetics, UFRGS, Porto Alegre, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil ; BRAIN (Basic Research and Advanced Investigations in Neurosciences) Laboratory, HCPA, Porto Alegre, Brazil ; Department of Genetics, UFRGS, Porto Alegre, Brazil.
authors.forename: Ida Vanessa D
authors.initials: IV
authors.lastname: Schwartz
keywords: GNPTAB; GlcNAc-1-phosphotransferase; Heterozygote; Mucolipidosis; Prenatal diagnosis