Paula and Bobby
Parents of Lillie
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
What is Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of?
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of is a rare disease. It is also known as LCAD - membranous type Vlcad Deficiency.
There have been a small number of patients, some of whom had previously been diagnosed as having long-chain acyl-CoA dehydrogenase deficiency but who have, on reinvestigation, very-long-chain acyl-CoA dehydrogenase deficiency. Presentation is in infancy, with lethargy, refusal to feed, respiratory arrest, ventricular fibrillation, and an enlarged liver. Neurologically there is severe hypotonia, seizures, and pyramidal tract signs. Occasionally, the clinical course can be mild (Merinero et al., 1996). Note the case of a child of 3 years who died after sedation and perioperative fasting (Roe et al., 2000). She had been previously undiagnosed.
Bichemically there is a metabolic acidosis with raised lactates, a normal plasma carnitine, but a moderately decreased free:total carnitine ratio. Urinary organic acids show a dramatic decarboxylic aciduria. Matrix LCAD is normal but membrane-bound LCAD activity (VLCAD) is markedly reduced. CPK is raised indicating muscle involvement. Sibs were reported, not proven, by Largilliere et al., (1995).
Andresen et al., (1996) mapped the gene to 17p11 and found mutations in four patients. Further deletions and point mutation have been reported (Souri et al., 1996, Aoyama et al., 1995)
* This information is courtesy of the L M D.
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What gene changes cause Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of?
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.
Mitochondrial - Mitochondrial inheritance is passed solely through the Mother. It involves the genes found in our mitochondrial DNA. Mitochondria are passed through the egg cells.
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 - 201475 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ACADVL - 17p13.1
What are the main symptoms of Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of?
The typical symptoms of the syndrome are:
Hypertrophic cardiomyopathy, Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Autosomal recessive inheritance, Nonketotic hypoglycemia, Exercise-induced myoglobinuria, Muscle stiffness, Muscle weakness, Muscular hypotonia, Lethargy, Tachypnea, Exercise-induced rhabdomyolysis, Vomiting, Sudden cardiac death, Dicarboxylic aciduria, Elevated serum creatine kinase, Decreased plasma carnitine, Exercise-induced myalgia
How does someone get tested for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of?
The initial testing for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of 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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