Methylmalonic Acidemia with HomocystinuriaSymptoms, Doctors, Treatments, Advances & More
Learn About Methylmalonic Acidemia with Homocystinuria
Methylmalonic acidemia with homocystinuria is a disorder in which the body is unable to correctly process certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. The body is also unable to convert the amino acid homocysteine to another amino acid, methionine. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. There are several forms of this combined condition, and the different forms have different genetic causes and signs and symptoms. The most common and best understood form, called cblC type (or cobalamin C disease), occurs in about 80 percent of affected individuals.
Methylmalonic acidemia with homocystinuria can be caused by variants (also known as mutations) in one of several genes, including MMACHC, MMADHC, LMBRD1, and ABCD4. Variants in these genes account for the different types of the disorder: cblC, cblD, cblF, and cblJ, respectively. Another type, called epi-cblC, is caused by variants in the PRDX1 gene, usually in combination with an MMACHC gene variant.
The most common form of the condition, methylmalonic acidemia with homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns worldwide. This form of the condition may be even more common in certain populations; some studies estimate that it occurs in 1 in 100,000 people in New York and 1 in 60,000 people in California.
Methylmalonic acidemia with homocystinuria is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Advocate Christ Outpatient Pavilion Oncology
Riaz Elahi is a Hematologist and an Oncologist in Oak Lawn, Illinois. Dr. Elahi has been practicing medicine for over 44 years and is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia with Homocystinuria. His top areas of expertise are Multiple Myeloma, Breast Cancer, Paget Disease of the Breast, and Pleuropulmonary Blastoma.
Lutheran Hospital - Cancer Centers Of CO Medical Oncology
Born in Kansas City, Missouri, Dr. Owsley earned his medical degree in Kansas City. He moved to Denver and completed his residency at Saint Joseph Hospital. After his residency, he worked as a hospitalist in Denver prior to starting a fellowship at the University of Tennessee in Memphis. His clinical interests surround melanoma, lymphoma and primary brain cancers.“A cancer diagnosis is an ailment that encompasses the entire person and as an oncologist, I am privileged to be a part of my patient’s journey. We would not just focus on the disease itself, but also on the effect it has on other aspects of the patient’s life. Overriding everything, we must never lose hope.”Dr. Owsley makes it a priority to be with his patients every step of the way during their cancer journey. He will fight alongside them and is readily available to assist in each patient’s unique journey.Dr. Owsley is an investigator involved in clinical research trials in the area of hematology and medical oncology. When not at work, Dr. Owsley spends his time watching his daughter grow up. He enjoys watching sports and rooting for his favorite teams including the Kansas City Chiefs. However, his wife is a native Denverite and makes sure to balance out his love of the Chiefs with her love of the Broncos. He loves taking advantage of the amazing opportunities that the 300 days of Colorado sunshine provide. Dr. Owsley is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia with Homocystinuria. His top areas of expertise are Paget Disease of the Breast, Breast Cancer, Lynch Syndrome, and Colorectal Cancer.
Tennessee Cancer Specialists
. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Methylmalonic Acidemia with Homocystinuria. His top areas of expertise are Penile Cancer, Hemochromatosis, Non-Hodgkin Lymphoma, and Acute Mountain Sickness.
Summary: General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.
Published Date: May 16, 2023
Published By: National Institutes of Health