Paula and Bobby
Parents of Lillie
3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD
What is 3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD?
3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD is a rare disease. It is also known as Beta-hydroxyisobutyryl Coa Deacylase Deficiency; Hibch Deficiency Methacrylic Acid Toxicity Methacrylic Aciduria Valine Metabolic Defect.
Brown et al., (1982) reported a male infant, the offspring of Egyptian first cousins, with multiple congenital abnormalities. Clinical description is brief, but at birth the male infant was noted to have dysmorphic facial features (not specified) and fed poorly. There was marked hypotonia. Multiple vertebral anomalies (also not specified) were noted in addition to a tetralogy of Fallot. At post mortem examination agenesis of the cingulate gyrus and corpus callosum was found. There was an increased excretion of urinary cysteine and cysteamine, which are conjugates of methacrylic acid. A deficiency of the enzyme beta-hydroxyisobutyryl CoA deacylase was demonstrated. Accumulation of methylacrylyl-CoA was postulated to cause tissue damage leading to the congenital malformations. Truscott et al., (1981) reported the same case. Brown (1994) discusses this case further. There is evidence from the rat for teratogenic effects of methacrylate esters (Singh et al., 1972). Exposed rats developed skeletal abnormalities including sternal abnormalities and fused or missing ribs. Haemangiomas were also noted.Read More
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What gene changes cause 3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD?
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.
OMIM Number - 250620 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
HIBCH - 2q32.2
What are the main symptoms of 3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD?
The typical symptoms of the syndrome are:
Global developmental delay, Autosomal recessive inheritance, Seizure, Abnormal vertebral morphology, Aminoaciduria, Tetralogy of Fallot, Muscular hypotonia, Myoclonus, Abnormal facial shape, Feeding difficulties in infancy, Dysmetria, Agenesis of corpus callosum, Dystonia, Developmental regression
How does someone get tested for 3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD?
The initial testing for 3-Hydroxyisobutyrl-CoA Hydrolase Deficiency; HIBCHD 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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