AADC Research Trust
http://www.aadcresearch.org
BIOPKU
http://www.biopku.org
All you need to know about BH4.
CDB-IMD
https://imd-casesdatabase.org
Databases of Pediatric Neurotransmitter Disorders inc. PKU
http://www.biopku.org
ERNDIM
http://www.erndim.org/
Human Gene Mutation Database
https://www.hgmd.cf.ac.uk
IEMbase
http://www.iembase.org
IEMbase's profile can be found here.
MITOMAP: A mitochondrial DNA database
http://www.mitomap.org/MITOMAP
Mutation Database for X-linked Adrenoleukodystrophy
http://www.x-ald.nl/