Gracile SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
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.
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.
Penn Radiology DCR
Ari Goldberg is a Radiologist practicing medicine in Phoenixville, Pennsylvania. Dr. Goldberg is rated as an Experienced provider by MediFind in the treatment of Gracile Syndrome. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Visceromegaly, Lung Nodules, Emphysema, Kimura Disease, and Prostatectomy. Dr. Goldberg is board certified in American Board Of Radiology.
Texas Health Internal Medicine
Aitazaz Shah is a primary care provider, practicing in Internal Medicine in Denton, Texas. Dr. Shah is rated as an Experienced provider by MediFind in the treatment of Gracile Syndrome. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Vertebroplasty, and Bone Graft.
Avera Medical Group Hematology, Transplant & Cellular Therapy — Prairie Center
Dr. Andrade-Gonzalez provides oncology and hematology services for blood cancers at Avera Medical Group Hematology, Transplant & Cellular Therapy in Sioux Falls, SD. Dr. Andrade is rated as an Experienced provider by MediFind in the treatment of Gracile Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Multiple Myeloma, Burkitt Lymphoma, Smoldering Multiple Myeloma, Bone Marrow Transplant, and Bone Marrow Aspiration. Dr. Andrade is board certified in American Board Of Internal Medicine Medical Oncology Board Certified Hematology Board Certified.
Published Date: March 01, 2014
Published By: National Institutes of Health