2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency

Symptoms

What are the main symptoms of 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

The main symptoms of 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency will generally start to be noticeable in infancy and include:

  • Seizures (epilepsy)
  • Movement problems
  • Retinal degeneration (vision problems)
  • Hearing loss
  • Weak muscles (hypotonia)
  • Males tend to have more severe symptoms than females

Males will have early development, but then they start losing the skills they have learned from prior milestones. This is referred to as regression and generally starts occurring before age 5. It results in intellectual disability, and loss of motor skills (sitting, walking, standing).

Females may have developmental delay, meaning they may not be reaching milestones at the same time as their peers. Females will not have the same regression as males although they may have seizures, movement problems, and hearing loss, but generally not as severe as in males.

If you or a family member have this condition, it is important to have regular checks of hearing and vision and to monitor development closely. Your doctor can help you find specialists in your area to help with this and get appropriate intervention when needed.

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Are there earlier onset, later onset, or variant forms of 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

What health problems should I look for in 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

Is there variable expression or incomplete penetrance in 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

Are there earlier onset, later onset, or variant forms of 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

For 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency, there have been some cases where there seems to be a connection between the change in the HSD17B10 gene and the symptoms the patient first shows. There also have been cases where the same change results in varying degrees of severity. A visit with a medical geneticist in your area can help you learn more about this condition.

What health problems should I look for in 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

The severity of health problems seen with 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency depends on if a person is a male or a female. In general, males will have more severe symptoms than females. Males start out with normal early development. However, before the age of 5 years, they start to loose milestones. So, if they were sitting, standing or walking, they loose the ability to do this (developmental regression). Males can have weak muscles (hypotonia), seizures, problems moving and intellectual disability (learning problems). It is also common to have vision and hearing loss as they get older. Females can have some of the same symptoms including learning problems, seizures and hearing loss. However, females do not usually have developmental regression. The reason that females tend to have less severe symptoms is because the gene is expressed differently in males than in females. Individuals with this condition should be monitored closely by their doctor or other appropriate specialists to monitor vision, hearing, seizures, learning and any additional health problems that may arise. Speak with your doctor about the specialists in your area.

Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

Males with 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency have developmental regression of motor skills, while females do not. Children with developmental regression will develop skills, such as sitting up or crawling. However, over time they lose the ability to do these things. If you have a child with this condition it is important to speak with your doctor to discuss how best to monitor your child's development.

Is there variable expression or incomplete penetrance in 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

As of July 2016, scientists are not aware of any individuals with a gene change (mutation) in the gene for 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency who does not have symptoms of the disorder. Therefore, the condition is 100% penetrant. However, we know that males have more severe symptoms than females. Therefore, there is variable expression of this condition. If you or a family member have had testing and are known to have a mutation in the gene for 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency, speaking with a medical geneticist or a genetic counselor in your area may help you understand more about the disease and the mutation in your family.

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