Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia

Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

“…Research to date suggests that differential developmental outcomes observed in the disorder are not related to conditions during the neonatal (e.g., age at diagnosis and restriction of galactose intake or severity of neonatal crisis) or postnatal period [e.g., adherence to diet] (Cleary et al 1995;Bosch 2011). Rather, developmental outcome may be influenced by prenatal conditions (Fridovich andWalter 2008, Potter et al 2008;Berry and Elsas 2011) such as harmful intrauterine levels of galactitol causing early but static neural injury (Ridel et al 2005). Exposure to galactose in the neonatal period may magnify the galactose toxicity in individual children (Berry and Elsas 2011).…”

“…Rather, developmental outcome may be influenced by prenatal conditions (Fridovich andWalter 2008, Potter et al 2008;Berry and Elsas 2011) such as harmful intrauterine levels of galactitol causing early but static neural injury (Ridel et al 2005). Exposure to galactose in the neonatal period may magnify the galactose toxicity in individual children (Berry and Elsas 2011).…”

Use of Site-Directed Mutagenesis in the Diagnosis, Prognosis and Treatment of Galactosemia

“…Inherited deficiencies of GALK, GALT, and GALE activities in humans have all been observed, studied, and reviewed extensively (Bosch et al, 2002;Elsas 1993;Fridovich-Keil et al, 1993a). The clinical manifestations of each enzyme deficiency, however, differ markedly Berry and Elsas, 2011;Fridovich-Keil et al, 1993a;Lai et al, 2009;). For instance, patients with GALK deficiency (MIM 230200) (Type II Galactosemia) have the mildest clinical consequences, as they may present only with cataracts (Bosch et al, 2002).…”

“…Unlike Type II or the peripheral Type III Galactosemia, patients with Type I (GALTdeficiency) Galactosemia, also the most common type of Galactosemia, suffer a range of debilitating long-term complications, which include premature ovarian insufficiency, learning deficits, ataxia and speech dyspraxia (Lai et al, 2009;Berry and Elsas, 2011). The current galactose-restricted diet fails to prevent these complications, and the medical/ patient communities are yearning for a more effective therapy.…”

Argininosuccinic aciduria: from a monogenic to a complex disorder

“…Importantly, it is also apparent that delineating the contributors to disease complexity will allow us to optimize therapy. 7 Argininosuccinic aciduria (ASA; OMIM 207900), the second most common urea-cycle disorder, is another prototype of a complex IEM. 8 ASA is caused by the deficiency of the urea cycle enzyme argininosuccinate lyase (ASL) that catalyzes the conversion of argininosuccinate to arginine and fumarate.…”