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.
Val Koganski MD PC
Valeri Koganski is a primary care provider, practicing in Internal Medicine in Langhorne, Pennsylvania. Dr. Koganski is rated as a Distinguished provider by MediFind in the treatment of Methylmalonic Acidemia with Homocystinuria. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Methylmalonic Acidemia with Homocystinuria, Inborn Amino Acid Metabolism Disorder, Diverticular Disease, Ureteroscopy, and Endoscopy. Dr. Koganski is board certified in American Board Of Internal Medicine. Dr. Koganski is currently accepting new patients.
Northeast Georgia Diagnostic Associates And Clinic, LLC
Padma Nadella is a Hematologist Oncology provider practicing medicine in Gainesville, Georgia. Dr. Nadella is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia with Homocystinuria. She is also highly rated in 71 other conditions, according to our data. Her clinical expertise encompasses Iron Deficiency Anemia, Childhood Iron Deficiency Anemia, Pleuropulmonary Blastoma, and Lung Cancer. Dr. Nadella is board certified in American Board Of Internal Medicine, Medical Oncology - 2001. Dr. Nadella is currently accepting new patients.
Northeast Georgia Diagnostic Associates And Clinic, LLC
Andre Kallab is a Hematologist Oncology provider practicing medicine in Gainesville, Georgia. Dr. Kallab is rated as an Advanced provider by MediFind in the treatment of Methylmalonic Acidemia with Homocystinuria. He is also highly rated in 68 other conditions, according to our data. His clinical expertise encompasses Lung Cancer, Pleuropulmonary Blastoma, Iron Deficiency Anemia, Childhood Iron Deficiency Anemia, and Tissue Biopsy. Dr. Kallab is board certified in American Board Of Internal Medicine, Medical Oncology - 1998. Dr. Kallab is currently accepting new patients.
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