A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, int...
Comprehensive, easy-to-understand information about this condition
How we create this content →Report Generation Failed
We couldn't automatically generate the report. This may be due to temporary service issues.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease
GlaxoSmithKline Intellectual Property Development Ltd. England
Other
Meta Healthcare Ltd,
Other
National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)
Other
Novartis Pharmaceuticals Corporation
Other
Orphan Europe SARL
Other
Pharmacia & Upjohn Company LLC
Other
VSL Pharmaceuticals, Inc.
Other