Paula and Bobby
Parents of Lillie
ACOX2-related liver fibrosis-ataxia-intellectual disability
What is ACOX2-related liver fibrosis-ataxia-intellectual disability?
ACOX2-related liver fibrosis-ataxia-intellectual disability is a rare disease. It is also known as ACOX2-related bile acid synthesis disorder with transaminase elevation, live.
Vilarinho et al. (2016) described a previously unrecognized disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia and cognitive impairment. The syndrome was caused by ACOX2 deficiency due to a homozygous truncating mutation in the gene. The proband, an 8-y-old boy of Turkish ancestry, the offspring of a second-cousin union, presented with vomiting and elevated transaminase levels at the age of 8 months. Over subsequent years, levels of transaminase and alanine aminotransferase were intermittently elevated; he also had steatorrhea, fat malabsorption and hypolipidemia. Liver biopsy at age 6 years showed many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration. The proband also had mild intellectual disability. Neurologic examination was remarkable for slurred speech, vertical gaze palsy, slight dysmetria, and mild gait ataxia.Read More
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What gene changes cause ACOX2-related liver fibrosis-ataxia-intellectual disability?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of ACOX2-related liver fibrosis-ataxia-intellectual disability?
The typical symptoms of the syndrome are:
How does someone get tested for ACOX2-related liver fibrosis-ataxia-intellectual disability?
The initial testing for ACOX2-related liver fibrosis-ataxia-intellectual disability can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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