We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.
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Social cognition, psychosocial development and well-being in galactosemia.
Orphanet J Rare Dis
September 2024
Univ. Savoie Mont Blanc, Univ. Grenoble Alpes, LIP/PC2S, Grenoble, 38000, France.
Background: Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a lower mental health. We hypothesised that social cognition deficits could partially explain this psychological symptomatology.
View Article and Find Full Text PDFHealth and well-being of maturing adults with classic galactosemia.
J Inherit Metab Dis
January 2025
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Article Synopsis
- A study analyzed long-term health outcomes in 92 adults (ages 30-78) with classic galactosemia (CG) and 38 unaffected siblings (ages 30-79) using anonymous surveys covering various health domains.
- Results showed that long-term complications in areas such as cognition, motor function, and psychosocial well-being persisted similarly to reports from younger groups, suggesting these issues do not worsen with age for most CG patients.
- The study explored connections between health outcomes and factors like early diet restrictions and age, finding some links to cataracts and bone health, but no significant trends were observed overall.
Safety, Pharmacokinetics, and Pharmacodynamics of the New Aldose Reductase Inhibitor Govorestat (AT-007) After a Single and Multiple Doses in Participants in a Phase 1/2 Study.
J Clin Pharmacol
November 2024
Applied Therapeutics Inc., New York, USA.
In classic galactosemia (CG) patients, aldose reductase (AR) converts galactose to galactitol. In a phase 1/2, placebo-controlled study (NCT04117711), safety, pharmacokinetics (PK), and pharmacodynamics (PD) of govorestat were evaluated after single and multiple ascending doses (0.5-40 mg/kg) in healthy adults (n = 81) and CG patients (n = 14).
View Article and Find Full Text PDFRestoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia.
J Inherit Metab Dis
September 2024
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Classic galactosemia (CG) is an autosomal recessive disorder that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the middle enzyme in the highly conserved Leloir pathway of galactose metabolism. That galactose metabolism is disrupted in patients with CG, and in GALT-null microbial, cell culture, and animal models of CG, has been known for many years. However, whether the long-term developmental complications of CG result from disrupted galactose metabolism alone, or from loss of some independent moonlighting function of GALT, in addition to disrupted galactose metabolism, has been posed but never resolved.
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