What is UBE2A deficiency syndrome?
UBE2A deficiency syndrome is a rare genetic disorder that mainly affects males.
Females, who have XX chromosome pairing, can be carriers passing on the mutation during pregnancy.
What causes UBE2A deficiency syndrome?
UBE2A deficiency syndrome is primarily caused by mutations in the UBE2A gene, which is located the X chromosome.
This gene provides instructions for making a protein involved in the breakdown and recycling of other proteins in the body.
Mutations in the UBE2A gene can lead to a deficiency or dysfunction of this protein, disrupting normal cellular processes and resulting in the characteristic features of UBE2A deficiency syndrome.
What are the symptoms of UBE2A deficiency syndrome?
Symptoms of UBE2A deficiency syndrome vary, depending on the degree of mutation present, but can include:
- Undeveloped facial features
- Speech delay
- Intellectual disability
- Heart defects
- Seizures
- Weakened immune system
- Kidney and urogenital malformation
- Skin problems.
There is currently no cure for UBE2A, but treatment to manage individual symptoms can help improve a person’s quality of life.
