KEBILIDI (eladocagene exuparvovec-tneq)
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
PTC THERAPEUTIC
Indication
Aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency is a rare, autosomal recessive inborn error of neurotransmitter metabolism caused by pathogenic variants in the *DDC* gene. Read more about Aromatic L-amino acid decarboxylase deficiency
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Coming soonAromatic L-amino acid decarboxylase deficiency is a rare, autosomal recessive inborn error of neurotransmitter metabolism caused by pathogenic variants in the *DDC* gene.
This enzymatic defect impairs the biosynthesis of essential biogenic amines, leading to a combined deficiency of catecholamines—specifically dopamine, norepinephrine, and epinephrine—as well as serotonin.
Primarily affecting the central and autonomic nervous systems, the condition typically manifests in early infancy with severe developmental delay, axial hypotonia, and characteristic paroxysmal movement disorders, most notably oculogyric crises and dystonia.
Affected individuals also frequently exhibit pervasive autonomic dysfunction, which can include temperature instability, excessive sweating, ptosis, nasal congestion, and blood pressure lability.
- medlineplus.gov
Aromatic L-amino acid decarboxylase deficiency is a rare, autosomal recessive inborn error of neurotransmitter metabolism caused by pathogenic variants in the *DDC* gene This enzymatic defect impairs the biosynthesis of essential biogenic amines, leading to a combined deficiency of catecholamines—specifically dopamine, norepinephrine, and epinephrine—as well as serotonin Primarily affecting the central and autonomic nervous systems, the condition typically manifests in early infancy with severe ...
- nih.gov
Aromatic L-amino acid decarboxylase deficiency is a rare, autosomal recessive inborn error of neurotransmitter metabolism caused by pathogenic variants in the *DDC* gene Primarily affecting the central and autonomic nervous systems, the condition typically manifests in early infancy with severe developmental delay, axial hypotonia, and characteristic paroxysmal movement disorders, most notably oculogyric crises and dystonia Affected individuals also frequently exhibit pervasive autonomic dysfunc...
- nih.gov
This enzymatic defect impairs the biosynthesis of essential biogenic amines, leading to a combined deficiency of catecholamines—specifically dopamine, norepinephrine, and epinephrine—as well as serotonin
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