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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Galactose epimerase deficiency: lessons from the GalNet registry

Fig. 3

Schematic recommendation for standardized diagnosis, treatment and follow-up in GALE deficiency. These recommendations are based on the collected information from our study population and the international clinical guideline of classic galactosemia (CG). a GALE enzymatic and genetic testing is needed for classification (generalized, intermediate or peripheral). In the presence of genetic variants clearly associated with a peripheral/intermediate/generalized form, further enzymatic testing in non-peripheral cells is not needed. If the given genotype is uncertain, the whole work up of GALE enzymatic and genetic testing is advised. b It is recommended to perform a WES in consanguineous families or when other genetic conditions could be responsible for the genotype. c Evidence is lacking whether or not to start a galactose-restricted diet in patients with intermediate GALE deficiency. The long-term outcomes and effect of dietary intervention remain unclear. d Periodic brain follow-up is recommended. If learning disabilities, speech/language and/or motor and/or psychosocial problems are noted, adequate testing for in-depth assessment is advised. e Gonadal follow-up is recommended due to the gap of knowledge in this entity regarding possible gonadal disfunction. It is recommended to evaluate the presence of ovarian disfunction in females and the presence of cryptorchidism in males. f Bone health follow-up is advised to monitor periodically. Following the guidelines for CG, a DEXA-scan is recommended from the age of 8–10 years. g Hearing screening is recommended in the first year of life. Short stature has been regularly reported, so it is recommended to evaluate the length periodically. Welling L, et al. Galactosemia Network (GalNet). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171–176. https://doi.org/10.1007/s10545-016-9990-5. Epub 2016 Nov 17. PMID: 27,858,262; PMCID: PMC5306419

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