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Reduced circulating aromatic L-amino acid decarboxylase activity

MedGen UID:
1053308
•Concept ID:
CN376549
•
Finding
Synonyms: Reduced circulating 5-hydroxytryptophan decarboxylase activity; Reduced circulating DOPA decarboxylase, activity
 
HPO: HP:6000037

Definition

The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced circulating aromatic L-amino acid decarboxylase activity

Conditions with this feature

Deficiency of aromatic-L-amino-acid decarboxylase
MedGen UID:
220945
•Concept ID:
C1291564
•
Disease or Syndrome
Aromatic L-amino acid decarboxylase deficiency (AADCD) is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010).
See: Condition Record
Deficiency of aromatic-L-amino-acid decarboxylase

Recent clinical studies

Etiology

Effect of hypoxia/hypercapnia on metabolism of 6-[(18)F]fluoro-L-DOPA in newborn piglets.
Bauer R, Brust P, Walter B, Vorwieger G, Bergmann R, Elhalag E, Fritz A, Steinbach J, Füchtner F, Hinz R, Zwiener U, Johannsen B
Brain Res 2002 Apr 26;934(1):23-33. doi: 10.1016/s0006-8993(02)02315-6. PMID: 11937066

Diagnosis

Effect of hypoxia/hypercapnia on metabolism of 6-[(18)F]fluoro-L-DOPA in newborn piglets.
Bauer R, Brust P, Walter B, Vorwieger G, Bergmann R, Elhalag E, Fritz A, Steinbach J, Füchtner F, Hinz R, Zwiener U, Johannsen B
Brain Res 2002 Apr 26;934(1):23-33. doi: 10.1016/s0006-8993(02)02315-6. PMID: 11937066

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