Learn About Gracile Syndrome

What is the definition of Gracile Syndrome?

GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.

Save information for later
Sign Up
What are the causes of Gracile Syndrome?

GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in oxidative phosphorylation.

How prevalent is Gracile Syndrome?

GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature.

Is Gracile Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Gracile Syndrome Local Doctors?
Distinguished
Highly rated in
8
conditions

University Of Helsinki And Helsinki University Hospital

Children's Hospital 
Helsinki, FI 

Vineta Fellman is in Helsinki, Finland. Fellman is rated as a Distinguished expert by MediFind in the treatment of Gracile Syndrome. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Coenzyme Q Cytochrome C Reductase Deficiency, Gracile Syndrome, Inborn Renal Aminoaciduria, and Hemosiderosis.

Distinguished
Highly rated in
5
conditions

Pediatrics

Lund, M, SE 

Heike Kotarsky is in Lund, Sweden. Kotarsky is rated as a Distinguished expert by MediFind in the treatment of Gracile Syndrome. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Gracile Syndrome, Inborn Renal Aminoaciduria, Coenzyme Q Cytochrome C Reductase Deficiency, and Hemosiderosis.

 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
Highly rated in
5
conditions

Mitochondrial Medicine, Lund University

Medicon Village 
Lund, M, SE 22381

Eskil Elmer is in Lund, Sweden. Elmer is rated as a Distinguished expert by MediFind in the treatment of Gracile Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Gracile Syndrome, Inborn Renal Aminoaciduria, Hemosiderosis, and Lactic Acidosis.

What are the latest Gracile Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: March 01, 2014Published By: National Institutes of Health

What are the Latest Advances for Gracile Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.