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aromatic-L-amino-acid decarboxylase deficiency (AADC deficiency)
Pathology:
- combined serotonin & catecholamine deficiency
Genetics:
- autosomal recessive
- associated with defects in DDC
Clinical manifestations:
- developmental & psychomotor delay
- poor feeding
- lethargy
- ptosis
- intermittent hypothermia
- gastrointestinal disturbances
- onset is early in infancy
Laboratory:
- L-dopa decarboxylase in plasma
General
inborn error of metabolism
Database Correlations
OMIM 608643
References
OMIM :accession 608643