Related Experiment Video
Updated: May 30, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Cardiac disease in methylmalonic acidemia.
Carlos E Prada1, Fatma Al Jasmi, Edwin P Kirk
1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
The Journal of Pediatrics
|July 26, 2011
Summary
Methylmalonic acidemia (MMA), a metabolic disorder, can affect multiple organs. This study identifies cardiac disease as a previously unrecognized complication in three MMA patients.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Methylmalonic acidemia (MMA) is a group of rare inherited metabolic disorders.
- It is characterized by the inability to process certain compounds, leading to a buildup of toxic substances.
- While MMA affects various organs, cardiac complications have not been previously documented.
Observation:
- This study reports on three patients diagnosed with methylmalonic acidemia.
- All three patients presented with significant cardiac disease.
- The cardiac involvement was a notable and unexpected clinical feature in these individuals.
Findings:
- Cardiac disease is identified as a potential complication of methylmalonic acidemia.
- This finding expands the known spectrum of clinical manifestations in MMA.
- The association suggests a potential link between metabolic dysfunction and cardiac pathology in MMA.
Implications:
- The findings highlight the need for cardiac monitoring in patients with MMA.
- This research may prompt further investigation into the mechanisms underlying cardiac involvement in MMA.
- Early recognition and management of cardiac issues could improve outcomes for MMA patients.
Related Concept Videos
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:25Cardiomyopathy I: Introduction and Classification
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
01:30Cardiomyopathy II: Dilated Cardiomyopathy
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
01:35Loss of Carboxy Group as CO2: Decarboxylation of Malonic Acid Derivatives
Just like β-keto acids—which upon thermal decarboxylation form ketones—β-dicarboxylic acids undergo decarboxylation to generate monocarboxylic acids with the liberation of carbon dioxide.