Long-term complications in classic galactosemia are not progressive

Smith, Nicole H.; Hendrickson, Emma T.; Garrett, Olivia S.; Chernoff, Rachel A.; Orloff, Danielle H.; Druss, Jared J.; Stettner, Nichole M.; Paull, Nathan H.; Fridovich-Keil, Judith L.

doi:10.1016/j.ymgme.2023.107708

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…In line with these results, neurocognitive function did not deteriorate in a cohort of 35 patients aged 1 week - 16 years, but the follow-up time was only 2–5 years ( Manis et al, 1997 ). A recent study in a robust dataset of CG patients (mean age of 18 years) concluded that speech/voice/language, cognitive, motor, and psychosocial outcomes are not progressive in most patients, but also here the time between testing was limited ( Smith et al, 2023 ). A pilot study with 10 adult patients (mean age 33 years) and a mean time interval of 3 years and 9 months reported cognitive stability ( Hermans et al, 2024 ).…”

Section: Brain Function Through Adulthoodmentioning

confidence: 99%

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Panis,

Vos,

Barić

et al. 2024

Front. Genet.

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Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge. Several proposed disease mechanisms are discussed, as well as the time of damage and potential treatment options. Furthermore, we combine data from longitudinal, cross-sectional and retrospective studies with the observations of specialist teams treating this disease to depict the brain disease course over time. Based on current data and insights, the majority of patients do not exhibit cognitive decline. A subset of patients, often with early onset cerebral and cerebellar volume loss, can nevertheless experience neurological worsening. While a large number of patients with CG suffer from anxiety and depression, the increased complaints about memory loss, anxiety and depression at an older age are likely multifactorial in origin.

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Section: Brain Function Through Adulthoodmentioning

confidence: 99%

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Panis,

Vos,

Barić

et al. 2024

Front. Genet.

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Health and well‐being of maturing adults with classic galactosemia

Garrett,

Druss,

Vos

et al. 2024

J of Inher Metab Disea

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Long‐term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both. Here, we extend what is known about the health and well‐being of maturing adults with CG by analyzing the results of anonymous custom surveys completed by 92 affected individuals, ages 30–78, and 38 unaffected sibling controls, ages 30–79. The median age for patients was 38.5 years and for controls was 41 years. These study participants hailed from 12 different countries predominantly representing Europe and North America. Participants reported on their general life experiences and outcomes in seven different domains including: speech/voice/language, cognition, motor function, cataracts, bone health, psychosocial well‐being, and gastrointestinal health. We also queried women about ovarian function. Our results indicated a prevalence of long‐term complications across all outcome domains that aligned with levels previously reported in younger cohorts. Given the sample size and age range of participants in this study, these findings strongly suggest that the adverse developmental outcomes commonly linked to CG are not progressive with age for most patients. We also tested four candidate modifiers for possible association with each of the outcomes followed, including: days of neonatal milk exposure, rigor of dietary galactose restriction in early childhood, current age, and home continent. We observed no associations that reached even nominal significance, except for the following: cataracts with neonatal milk exposure (p = 2.347e−04), cataracts with age (p = 0.018), and bone health with home continent (p = 0.03).

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Long-term complications in classic galactosemia are not progressive

Cited by 2 publications

References 22 publications

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Health and well‐being of maturing adults with classic galactosemia

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