Methylmalonic acidemia

An inherited autosomal recessive disorder characterized by abnormalities in protein and lipid metabolism. From an early age, patients present with various symptoms that may include VOMITING; DEHYDRATION; HYPOTONIA; DEVELOPMENTAL DELAYS; HEPATOMEGALY; LETHARGY, and CHRONIC KIDNEY DISEASE. Germline mutations in the MUT (OMIM: 609058), MMAA (OMIM: 251100), MMAB (OMIM: 251110) , MMADHC (OMIM: 277410), and MCEE (OMIM: 251120) genes have been identified. Acidemia means presence in the blood, Aciduria means presence in the urine.

Also Known As:

Acidemia, methylmalonic; Isolated Methylmalonic Acidemia; Methylmalonic Aciduria

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Methylmalonic acidemia: 843
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Methylmalonic acidemia: 843

A R Varasteh Selected Research

A R Varasteh Research Topics

Disease

Drug/Important Bio-Agent (IBA)