combined malonic and methylmalonic acidemia
human disease
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Summary
combined malonic and methylmalonic acidemia is a rare disease[1]. It draws 272 Wikipedia views per month (rare disease category, ranking #224 of 627).[2]
Key Facts
- Instance of: class of disease[3], abnormally high value[4]
- Subclass of: classic organic aciduria[5], methylmalonic acidemia[6], organic acidemia[7], autosomal recessive disease[8], inherited metabolic disorder[9]
- Symptoms and signs: hypoglycemia[10], coma[11], ketoacidosis[12], convulsion[13], failure to thrive[14], microcephaly[15], Memory Problems[16], dystonia[17]
- Health specialty: medical genetics[18], endocrinology[19]
- Genetic association: ACSF3[20]
- Age of onset: any age[21]
- Exact match: http://www.orpha.net/ORDO/Orphanet_289504[22], http://purl.obolibrary.org/obo/DOID_0111263[23], http://identifiers.org/doid/DOID:0111263[24]
- On focus list of Wikimedia project: WikiProject Medicine[25]
- Has phenotype: methylmalonic acidemia[26], seizure[27], microcephaly[28], behavioral abnormality[29], developmental language disorder[30], global developmental delay[31], encephalopathy[32], dystonia[33], failure to thrive[34], acidosis[35], hypoglycemia[36], dehydration[37], vomiting[38], migraine[39]
- P14914: D289504[40]
Why It Matters
combined malonic and methylmalonic acidemia has Wikipedia articles in 29 language editions, a strong signal of global cultural recognition.[41] It is known by 38 alternative names across languages and contexts.[42]