Aromatic L-amino acid decarboxylase deficiency
MONDO:0012084Aromatic 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.
Also known as: AADC deficiency, aromatic L-amino acid decarboxylase deficiency, aromatic L-amino-acid decarboxylase deficiency, Aadc deficiency, DDC deficiency, Dopa decarboxylase deficiency, aromatic amino acid decarboxylase deficiency
3 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Disease of genetic or genomic mechanism
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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Disorder of catecholamine synthesis
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Inborn disorder of biogenic amine metabolism and transport
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