Elevated urinary vanillactic acid level

MedGen UID:: 1053759
•Concept ID:: CN378354
•: Finding

HPO:	HP:6001002

Definition

The amount of vanillactic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated urinary vanillactic acid level

Abnormality of the urinary system
- Abnormality of the urinary system physiology
  - Abnormality of urine homeostasis
    - Abnormal urine metabolite level
      - Abnormal urine carboxylic acid level
        Elevated urinary carboxylic acid
        Elevated urinary vanillactic acid level

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