Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disea...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding galactosemia can be attributed to its rarity, which affects fewer than 1 in 60,000 births, resulting in scarce systematic clinical studies. Additionally, the genetic basis of galactosemia has only recently been identified, and comprehensive clinical characterization is ongoing. This makes it challenging to gather extensive data on clinical features and outcomes.
To navigate your care for galactosemia, consider consulting with a metabolic specialist who has expertise in inherited metabolic disorders. Resources such as the Galactosemia Foundation (https://galactosemia.org) and the Galactosaemia Support Group (https://galactosaemia.org) can provide valuable support and information. Additionally, inquire about opportunities to participate in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially for family planning and understanding potential risks.
There are currently two orphan drugs designated for galactosemia: 2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid and an adeno-associated virus 2/9 expressing the human GALT gene (AAV2/9-hGALT). Additionally, there are two active clinical trials focused on this condition. For more information, you can search for ongoing studies at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=galactosemia.
Actionable guidance for navigating care for galactosemia
To navigate your care for galactosemia, consider consulting with a metabolic specialist who has expertise in inherited metabolic disorders. Resources such as the Galactosemia Foundation (https://galactosemia.org) and the Galactosaemia Support Group (https://galactosaemia.org) can provide valuable support and information. Additionally, inquire about opportunities to participate in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially for family planning and understanding potential risks.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the galactosemia community
Helpful links for rare disease information and support
The limited documentation surrounding galactosemia can be attributed to its rarity, which affects fewer than 1 in 60,000 births, resulting in scarce systematic clinical studies. Additionally, the genetic basis of galactosemia has only recently been identified, and comprehensive clinical characterization is ongoing. This makes it challenging to gather extensive data on clinical features and outcomes.
To navigate your care for galactosemia, consider consulting with a metabolic specialist who has expertise in inherited metabolic disorders. Resources such as the Galactosemia Foundation (https://galactosemia.org) and the Galactosaemia Support Group (https://galactosaemia.org) can provide valuable support and information. Additionally, inquire about opportunities to participate in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially for family planning and understanding potential risks.
There are currently two orphan drugs designated for galactosemia: 2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid and an adeno-associated virus 2/9 expressing the human GALT gene (AAV2/9-hGALT). Additionally, there are two active clinical trials focused on this condition. For more information, you can search for ongoing studies at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=galactosemia.
Actionable guidance for navigating care for galactosemia
To navigate your care for galactosemia, consider consulting with a metabolic specialist who has expertise in inherited metabolic disorders. Resources such as the Galactosemia Foundation (https://galactosemia.org) and the Galactosaemia Support Group (https://galactosaemia.org) can provide valuable support and information. Additionally, inquire about opportunities to participate in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially for family planning and understanding potential risks.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the galactosemia community
Helpful links for rare disease information and support
The limited documentation surrounding galactosemia can be attributed to its rarity, which affects fewer than 1 in 60,000 births, resulting in scarce systematic clinical studies. Additionally, the genetic basis of galactosemia has only recently been identified, and comprehensive clinical characterization is ongoing. This makes it challenging to gather extensive data on clinical features and outcomes.
To navigate your care for galactosemia, consider consulting with a metabolic specialist who has expertise in inherited metabolic disorders. Resources such as the Galactosemia Foundation (https://galactosemia.org) and the Galactosaemia Support Group (https://galactosaemia.org) can provide valuable support and information. Additionally, inquire about opportunities to participate in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially for family planning and understanding potential risks.
There are currently two orphan drugs designated for galactosemia: 2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid and an adeno-associated virus 2/9 expressing the human GALT gene (AAV2/9-hGALT). Additionally, there are two active clinical trials focused on this condition. For more information, you can search for ongoing studies at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=galactosemia.
Actionable guidance for navigating care for galactosemia
To navigate your care for galactosemia, consider consulting with a metabolic specialist who has expertise in inherited metabolic disorders. Resources such as the Galactosemia Foundation (https://galactosemia.org) and the Galactosaemia Support Group (https://galactosaemia.org) can provide valuable support and information. Additionally, inquire about opportunities to participate in patient registries or natural history studies to contribute to the understanding of this condition. Genetic counseling may also be beneficial, especially for family planning and understanding potential risks.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the galactosemia community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 1, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.