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Elevated urinary N-acetylaspartic acid level

MedGen UID:
Concept ID:
HPO: HP:0032272


Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary N-acetylaspartic acid level

Conditions with this feature

Spongy degeneration of central nervous system
MedGen UID:
Concept ID:
Disease or Syndrome
Most individuals with Canavan disease have the neonatal/infantile form. Although such infants appear normal early in life, by age three to five months, hypotonia, head lag, macrocephaly, and developmental delays become apparent. With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, seizures, and feeding difficulties. Swallowing deteriorates, and some children require nasogastric feeding or permanent feeding gastrostomies. Joint stiffness increases, so that these children resemble individuals with cerebral palsy. Children with mild/juvenile Canavan disease may have normal or mildly delayed speech or motor development early in life without regression. In spite of developmental delay most of these children can be educated in typical classroom settings and may benefit from speech therapy or tutoring as needed. Most children with mild forms of Canavan disease have normal head size, although macrocephaly, retinitis pigmentosa, and seizures have been reported in a few individuals.
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
MedGen UID:
Concept ID:
Disease or Syndrome
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is an autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate (summary by Dewulf et al., 2019).

Recent clinical studies


Aydinli N, Calişkan M, Calay M, Ozmen M
Turk J Pediatr 1998 Oct-Dec;40(4):549-57. PMID: 10028864

Clinical prediction guides

Aydinli N, Calişkan M, Calay M, Ozmen M
Turk J Pediatr 1998 Oct-Dec;40(4):549-57. PMID: 10028864

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