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Fatal infantile lactic acidosis with methylmalonic aciduria
Disease definition
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
ORPHA:17
Classification level: DisorderA summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2009) - AWMF
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.