title: Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome.
abstract: Berardinelli-Seip syndrome (BSS) is a very rare disorder characterized by near-complete absence of adipose tissue from birth or early infancy, hypoleptinemia, hypertriglyceridemia, insulin resistance, diabetes mellitus, and other clinical signals. It is caused by mutations in AGPAT2 or Gng3lg. We evaluated 10 BSS patients and 10 healthy subjects. A single dose of 382.43 μmol zinc was administered intravenously before and after 3 months of oral zinc supplementation. Blood samples were collected from the contralateral arm at 0, 30, 60, 90, and 120 min after zinc injection. Plasma and serum were obtained to measure hematological and biochemical parameters. Urine was collected to measure creatinine, protein, and zinc. Basal serum zinc levels were similar in controls and BSS patients. However, serum zinc profiles were significant reduced in BSS patients in comparison with controls. The change in total-body zinc clearance was more significant in BSS patients, indicating that these patients had suboptimum zinc deficiency.
authors.affiliation: Postgraduate Program in Health Sciences, Federal University of Rio Grande do Norte (UFRN), Natal, Brazil.
authors.forename: Maria Goretti do Nascimento
authors.initials: MG
authors.lastname: Santos
authors.forename: Maria de Fátima Paiva
authors.initials: Mde F
authors.lastname: Baracho
authors.forename: Sancha Helena de Lima
authors.initials: SH
authors.lastname: Vale
authors.forename: Lúcia Dantas
authors.initials: LD
authors.lastname: Leite
authors.forename: Erika Dantas de Medeiros
authors.initials: ED
authors.lastname: Rocha
authors.forename: Naira Josele Neves
authors.initials: NJ
authors.lastname: de Brito
authors.forename: Mardone Cavalcante
authors.initials: MC
authors.lastname: França
authors.forename: Maria das Graças
authors.initials: Md
authors.lastname: Almeida
authors.forename: Samanta Cristina
authors.initials: SC
authors.lastname: Chiquetti
authors.forename: Júlio Sérgio
authors.initials: JS
authors.lastname: Marchini
authors.forename: José
authors.initials: J
authors.lastname: Brandão-Neto
mesh_terms: D000328:Adult; D019587:Dietary Supplements / Q000032:analysis; D005260:Female; D006801:Humans; D007700:Kinetics; D052497:Lipodystrophy, Congenital Generalized / Q000378:metabolism*; D008297:Male; D015032:Zinc / Q000008:administration & dosage / Q000097:blood* / Q000172:deficiency* / Q000652:urine
chemical_list: D015032:Zinc