Details of Disease

General Information of Disease (ID: DIS3C407)

Disease Name	Aromatic L-amino acid decarboxylase deficiency
Synonyms	DDC deficiency; Dopa decarboxylase deficiency; Aadc deficiency; aromatic amino acid decarboxylase deficiency; aromatic L-amino acid decarboxylase deficiency; AADC deficiency; aromatic L-amino-acid decarboxylase deficiency
Disease Class	5C59: Neurotransmitter metabolic error
Definition	Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Disease Hierarchy	DISH38WY: Disorder of catecholamine synthesis DIS3C407: Aromatic L-amino acid decarboxylase deficiency
ICD Code	ICD-11 ICD-11: 5C59.00
Disease Identifiers	MONDO ID MONDO_0012084 MESH ID C537437 UMLS CUI C1291564 OMIM ID 608643 MedGen ID 220945 Orphanet ID 35708 SNOMED CT ID 124600004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
GT-AADC	DM8N3OQ	Phase 2	Gene therapy	[1]
PTC-AADC	DM9ZHE3	Phase 2	Gene therapy	[2]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DDC	TTN451K	Definitive	Genetic Variation	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DDC	DETK9CN	Definitive	Autosomal recessive	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FIGNL1	OTKII63K	Strong	Genetic Variation	[5]
OMD	OTFRELBB	Strong	Biomarker	[6]
PLPBP	OT9DZ8P6	Strong	Genetic Variation	[7]
PTS	OTTYWQXR	Strong	Genetic Variation	[8]
DDC	OT0TSW09	Definitive	Autosomal recessive	[4]
------------------------------------------------------------------------------------

References

1	Clinical pipeline report, company report or official report of PTC Therapeutics.
2	ClinicalTrials.gov (NCT04903288) An Open-Label Trial to Address the Safety of the SmartFlow MR-Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Subjects. U.S.National Institutes of Health.
3	Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5	Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26.
6	High throughput newborn screening for aromatic -amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.J Inherit Metab Dis. 2020 May;43(3):602-610. doi: 10.1002/jimd.12208. Epub 2020 Jan 6.
7	PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.
8	Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8.