TY - JOUR
T1 - Brain function in classic galactosemia, a galactosemia network (GalNet) members review
AU - Panis, Bianca
AU - Vos, E. Naomi
AU - Baric, Ivo
AU - Bosch, Annet M.
AU - Brouwers, Martijn C.G.J.
AU - Burlina, Alberto
AU - Cassiman, David
AU - Coman, David J.
AU - Couce, María L.
AU - Das, Anibh M.
AU - Demirbas, Didem
AU - Empain, Aurélie
AU - Gautschi, Matthias
AU - Grafakou, Olga
AU - Grunewald, Stephanie
AU - Kingma, Sandra D.K.
AU - Knerr, Ina
AU - Leão-Teles, Elisa
AU - Möslinger, Dorothea
AU - Murphy, Elaine
AU - Õunap, Katrin
AU - Pané, Adriana
AU - Paci, Sabrina
AU - Parini, Rossella
AU - Rivera, Isabel A.
AU - Scholl-Bürgi, Sabine
AU - Schwartz, Ida V.D.
AU - Sdogou, Triantafyllia
AU - Shakerdi, Loai A.
AU - Skouma, Anastasia
AU - Stepien, Karolina M.
AU - Treacy, Eileen P.
AU - Waisbren, Susan
AU - Berry, Gerard T.
AU - Rubio-Gozalbo, M. Estela
N1 - Funding Information:
The author(s) declare that no financial support was received for the research, authorship, and/or publication of this article.
Publisher Copyright:
Copyright © 2024 Panis, Vos, Baric, Bosch, Brouwers, Burlina, Cassiman, Coman, Couce, Das, Demirbas, Empain, Gautschi, Grafakou, Grunewald, Kingma, Knerr, Leão-Teles, Möslinger, Murphy, Õunap, Pané, Paci, Parini, Rivera, Scholl-Bürgi, Schwartz, Sdogou, Shakerdi, Skouma, Stepien, Treacy, Waisbren, Berry and Rubio-Gozalbo.
PY - 2024/2/15
Y1 - 2024/2/15
N2 - 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.
AB - 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.
KW - brain
KW - classic galactosemia
KW - cognitive problems
KW - galactose
KW - movement disorders
KW - neurodevelopment
KW - neuropsychiatry
U2 - 10.3389/fgene.2024.1355962
DO - 10.3389/fgene.2024.1355962
M3 - (Systematic) Review article
SN - 1664-8021
VL - 15
JO - Frontiers in Genetics
JF - Frontiers in Genetics
M1 - 1355962
ER -