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Page 1
Galactosemia unsolved.
Segal S. Segal S. Eur J Pediatr. 1995;154(7 Suppl 2):S97-102. doi: 10.1007/BF02143813. Eur J Pediatr. 1995. PMID: 7671976 Review.
Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet. A complet …
Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of m …
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E, de Vries MC, Roosendaal SD, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Mol Genet Metab. 2020 Dec;131(4):370-379. doi: 10.1016/j.ymgme.2020.11.001. Epub 2020 Nov 6. Mol Genet Metab. 2020. PMID: 33199205 Free article.
The association between several neuroimaging parameters and both neurological and intellectual outcome was investigated. RESULTS: Twenty-one patients with CG (median age 22 years, range 8-47) and 24 controls (median age 30, range 16-52) were included. ...CONCLUSION: …
The association between several neuroimaging parameters and both neurological and intellectual outcome was investigated. RESUL …
A molecular approach to galactosemia.
Elsas LJ 2nd, Langley S, Paulk EM, Hjelm LN, Dembure PP. Elsas LJ 2nd, et al. Eur J Pediatr. 1995;154(7 Suppl 2):S21-7. doi: 10.1007/BF02143798. Eur J Pediatr. 1995. PMID: 7671959
A more common clinical variant, Duarte/Classical (D/G) produces partial enzymatic impairment. Although neonatal death due to G/G galactosemia has been largely eliminated by population-based screening and intervention, long-term outcome in some is associated with imp …
A more common clinical variant, Duarte/Classical (D/G) produces partial enzymatic impairment. Although neonatal death due to G/G galactos …
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT. Rubio-Gozalbo ME, et al. J Inherit Metab Dis. 2025 Mar;48(2):e70013. doi: 10.1002/jimd.70013. J Inherit Metab Dis. 2025. PMID: 39953772 Free PMC article. Review.
Different inborn errors of metabolism in this pathway are known, the most frequent and well-studied being Classic Galactosemia (CG) (OMIM 230400) due to pathogenic variants in the GALT gene. Substrate reduction using dietary restriction of galactose is currently the only a …
Different inborn errors of metabolism in this pathway are known, the most frequent and well-studied being Classic Galactosemia (CG) ( …
The neuropsychological profile of galactosaemia.
Doyle CM, Channon S, Orlowska D, Lee PJ. Doyle CM, et al. J Inherit Metab Dis. 2010 Oct;33(5):603-9. doi: 10.1007/s10545-010-9154-y. Epub 2010 Jul 6. J Inherit Metab Dis. 2010. PMID: 20607611
This study was designed to examine the neuropsychological profile of individuals with galactosaemia in terms of IQ, memory, executive functioning, perceptual abilities and educational outcome. Twenty-eight people with classic galactosaemia and no comorbid …
This study was designed to examine the neuropsychological profile of individuals with galactosaemia in terms of IQ, memory, executive …
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.
Hulshof EM, Lantinga HP, Alkemade G, Bosch AM, Brands MM, Vliet DD, Haijer-Schreuder AB, Hoytema van Konijnenburg EMM, Janssen MCH, van der Klauw MM, Langeveld M, Lubout CMA, van Ockenburg SL, Oussoren E, Panis B, Sjouke B, de Vries M, Wagenmakers MAEM, Wijnen M, Sival DA, Tijssen MAJ, de Koning TJ, Koens LH. Hulshof EM, et al. J Inherit Metab Dis. 2025 Nov;48(6):e70105. doi: 10.1002/jimd.70105. J Inherit Metab Dis. 2025. PMID: 41208362 Free PMC article.
Eight months later, the same videos were assessed using an instructional video demonstrating the four neurological tests, and a screening tool including these tests with 14 yes/no questions regarding observed abnormalities. ...Sensitivity of the tool was 68%. In the second …
Eight months later, the same videos were assessed using an instructional video demonstrating the four neurological tests, and a scree …
Abnormal somatosensory evoked potentials in patients with classic galactosemia: correlation with neurologic outcome.
Kaufman FR, Horton EJ, Gott P, Wolff JA, Nelson MD Jr, Azen C, Manis FR. Kaufman FR, et al. J Child Neurol. 1995 Jan;10(1):32-6. doi: 10.1177/088307389501000109. J Child Neurol. 1995. PMID: 7769175
In classic galactosemia, long-term neurologic sequelae can include low cognitive functioning and a curious neurologic syndrome with tremors, dysmetria, and ataxia. ...Results were correlated with age at diagnosis, severity of illness, age at evoked potentials …
In classic galactosemia, long-term neurologic sequelae can include low cognitive functioning and a curious neurologic s …
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
Ahtam B, Waisbren SE, Anastasoaie V, Berry GT, Brown M, Petrides S, Afacan O, Prabhu SP, Schomer D, Grant PE, Greenstein PE. Ahtam B, et al. J Inherit Metab Dis. 2020 Nov;43(6):1205-1218. doi: 10.1002/jimd.12279. Epub 2020 Aug 3. J Inherit Metab Dis. 2020. PMID: 32592186
Classic galactosemia (OMIM# 230400) is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase deficiency. Newborn screening and prompt treatment with a galactose-free diet prevent the severe consequences of galactosemia, but clinical outco …
Classic galactosemia (OMIM# 230400) is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase deficiency. New …
[Galactosemia: a problem still unsolved].
Szczypka M. Szczypka M. Pediatr Pol. 1996 Jun;71(6):487-92. Pediatr Pol. 1996. PMID: 8756765 Review. Polish.
Galactose-restricted dietary treatment, the only therapy used in galactosemia, brings considerable improvement, especially in the neonatal period. However, in the most galactosemic patients this treatment does not prevent development of late-onset complications; mental ret …
Galactose-restricted dietary treatment, the only therapy used in galactosemia, brings considerable improvement, especially in the neo …
Outcomes of siblings with classical galactosemia.
Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP. Hughes J, et al. J Pediatr. 2009 May;154(5):721-6. doi: 10.1016/j.jpeds.2008.11.052. Epub 2009 Feb 1. J Pediatr. 2009. PMID: 19181333
OBJECTIVES: To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical galactosemia (McKusick 230400), an autosomal recessive disorder of carbohydrate metabolism and galactose-1-phosphate uridyltransferase (GALT) def …
OBJECTIVES: To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical galactose …
33 results