Findings in infants/children with mutation of MCEE have ranged from complete absence of symptoms to severe metabolic acidosis with increased MMA and 2-methylcitrate and ketones
[ncbi.nlm.nih.gov]
[…] for information on rare diseases and orphan drugs.Orpha Number: 28DefinitionAn inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas
[malacards.org]
[…] feeding, vomiting, failure to thrive, developmental delay, liver disease, neutropenia, thrombocytopenia, osteomalacia and osteoporosis, lethargy, hypotonia, seizures, ataxia, coma
[atm.amegroups.com]