There is sometimes mental retardation in galactosemia.
Mental retardation is sometimes a complication in people with galactosemia, especially in people that have classical galactosemia, especially when they are not diagnosed and treated early enough.
Early diagnosis and strict dietary management such as by avoiding galactose and lactose can prevent severe complications of galactosemia such as cataracts and liver failure, but some people may still experience mild mental retardation and other possible cognitive impairment.
Galactosemia affects adults by causing various health issues and challenges in the adults daily life.
Common issues that galactosemia can cause in adults are depression, anxiety, low bone density, tremors, cognitive challenges and speech difficulties.
Also 1 in 5 adults with galactosemia also develop galactosemia related cataracts, which is caused by the build up of toxic galactitol in the lens of the eye.
The symptoms of galactosemia in adults are ovarian failure in women, cognitive issues such as memory problems, difficulties with language and speech and tremors.
And even when early treatment for galactosemia, some adults may even experience ongoing challenges with their daily activities like motor skills and memory.
And although less common, seizures can also occur as a result of galactosemia.
Some people with galactosemia may also experience cataracts which is clouding of the lens of the eyes, low bone density, anxiety, depression, social isolation, difficulty with precise hand movements and coordination and even learning difficulties.
The way someone gets galactosemia is through a gene mutation.
Inheriting galactosemia from both parents is how you get galactosemia.
Galactosemia is an inherited metabolic disorder that is caused by mutations in the genes which encode enzymes that are involved in the breakdown of galactose, which is a sugar that is found in dairy products and milk.
Classic galactosemia type I is caused by mutations in the GALT gene, that codes for the enzyme galactose-1-phosphate uridyl transferase (GALT).
Galactokinase deficiency type II is caused by mutations in the GALK1 gene, that codes for the enzyme galactokinase.
And Galactose epimerase deficiency type III is caused by mutations in the GALE gene, that codes for the enzyme galactose epimerase.
And when these enzymes are deficient, galactose accumulates in your body and results in various different health issues such as intellectual disability, growth failure, cataracts, kidney failure and even liver damage.
Galactosemia is inherited in an autosomal recessive pattern, which means that the child has to inherit a mutated gene from both parents to develop the galactosemia condition.