The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Chronic hepatic failure||90%|
|Feeding difficulties in infancy||90%|
|Nausea and vomiting||90%|
|Reduced bone mineral density||90%|
|Abnormality of coagulation||50%|
|Abnormality of the voice||50%|
|Edema of the lower limbs||50%|
|Neurological speech impairment||50%|
|Abnormality of the genital system||7.5%|
|Autosomal recessive inheritance||-|
|Decreased liver function||-|
|Failure to thrive||-|
|Hyperchloremic metabolic acidosis||-|
|Premature ovarian failure||-|
Because the body also makes some galactose, symptoms cannot be completely avoided by removing all lactose and galactose from the diet. Researchers are working on finding a treatment to lower the amount of galactose made by the body, but there is no effective method to do so at this time.
The Screening, Technology, and Research in Genetics (STAR-G) Project is a US-based organization that provides information on newborn screening. They provide comprehensive information for treatment on galactosemia. To view this information, click here.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My 11 year-old grandson has galactosemia. He drinks soy milk all the time. Is one of the side effects of drinking so much soy estrogen or some hormone that can cause breast development? I haven't been able to find an answer to that question. Any information you can provide will be appreciated. Thank you. See answer
My newborn baby was diagnosed with galactosemia. Please tell me what I should do. See answer