Methylmalonic acidemia

Organic acidemia with metabolic acidosis, hyperammonemia and risk of metabolic stroke.

Key features

Neonatal acidosis, hyperammonemia, failure to thrive, renal disease.

Inheritance: Autosomal recessive

Prevalence: ~1 in 50,000–100,000

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Patient organisation: Organic Acidemia Association

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Sources: Orphanet (orpha.net), OMIM, GeneReviews (NCBI), WHO ICD-11, EULAR/ACR guidelines. Schema.org MedicalCondition structured data included.