Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

Alias:
Aadc Deficiency
Deficiency of Aromatic-L-Amino-Acid Decarboxylase
Dopa Decarboxylase Deficiency
Ddc Deficiency
Aromatic-L-Amino-Acid Decarboxylase Deficiency
Aromatic Amino Acid Decarboxylase Deficiency
Aadcd
Aromatic L-Amino-Acid Decarboxylase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aromatic L-Amino Acid Decarboxylase Deficiency, also known as aadc deficiency, is related to pyridoxamine 5-prime-phosphate oxidase deficiency and sleep disorder, and has symptoms including constipation, diarrhea and myoclonus. An important gene associated with Aromatic L-Amino Acid Decarboxylase Deficiency is DDC (Dopa Decarboxylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Pharmaceutical Solutions and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include heart and whole blood, and related phenotypes are athetosis and limb dystonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
19
157
54

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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