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)

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon


Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!