AIM: To study the relevance of restricting the exogenous intake of small amounts of galactose, such as from fruit and vegetables, in patients with classical galactosaemia. METHODS: For a period of six weeks, increasing doses of oral galactose to a maximum of 600 mg per day, were added to a very strict galactose restricted diet in three adolescent patients homozygous for the Q188R mutation. During the study, physical examination, including an extended ophthalmic examination, and laboratory studies were performed on a weekly basis. RESULTS: No significant change in any of the studied clinical or biochemical parameters was observed. CONCLUSIONS: These findings provide further evidence that attempts to exclude trace amounts of galactose from the diet are not justified. Once the diet is made more liberal, a long term follow up study will be necessary.
AIM: To study the relevance of restricting the exogenous intake of small amounts of galactose, such as from fruit and vegetables, in patients with classical galactosaemia. METHODS: For a period of six weeks, increasing doses of oral galactose to a maximum of 600 mg per day, were added to a very strict galactose restricted diet in three adolescent patients homozygous for the Q188R mutation. During the study, physical examination, including an extended ophthalmic examination, and laboratory studies were performed on a weekly basis. RESULTS: No significant change in any of the studied clinical or biochemical parameters was observed. CONCLUSIONS: These findings provide further evidence that attempts to exclude trace amounts of galactose from the diet are not justified. Once the diet is made more liberal, a long term follow up study will be necessary.
Authors: L Varela-Lema; L Paz-Valinas; G Atienza-Merino; R Zubizarreta-Alberdi; R Vizoso Villares; M López-García Journal: J Inherit Metab Dis Date: 2016-04-26 Impact factor: 4.982
Authors: Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil Journal: J Inherit Metab Dis Date: 2012-03-27 Impact factor: 4.982
Authors: Ina Knerr; Karen Patricia Coss; Jürgen Kratzsch; Ellen Crushell; Anne Clark; Peter Doran; Yoon Shin; Henning Stöckmann; Pauline Mary Rudd; Eileen Treacy Journal: Pediatr Res Date: 2015-06-08 Impact factor: 3.756
Authors: Henning Stockmann; Karen P Coss; M Estela Rubio-Gozalbo; Ina Knerr; Maria Fitzgibbon; Ashwini Maratha; James Wilson; Pauline Rudd; Eileen P Treacy Journal: JIMD Rep Date: 2015-09-30