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Elevated urine acetoacetic acid level

MedGen UID:
Concept ID:
HPO: HP:0033407


Elevated amount of acetoacetic acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urine acetoacetic acid level

Conditions with this feature

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented between day 2 of life and early childhood (up to age 20 months) with hyperammonemic encephalopathy (i.e., lethargy, feeding intolerance, weight loss, tachypnea, seizures, and coma). Given that fewer than 20 affected individuals have been reported to date, the ranges of initial presentations and long-term prognoses are not completely understood. As of 2021 the oldest known affected individual is an adolescent. Almost all affected individuals reported to date have shown normal psychomotor development and no further episodes of metabolic crisis; however, a few have shown mild learning difficulties or delayed motor skills.
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
MedGen UID:
Concept ID:
Disease or Syndrome
Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM) is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. The severity is highly variable. The disorder is progressive; about half of patients show developmental regression with loss of previous skills. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have nonspecific abnormalities on brain imaging. Death in childhood may occur (Kaiyrzhanov et al., 2022).

Recent clinical studies


Hilton PJ, McKinnon W, Lord GA, Peron JM, Forni LG
Biomed Chromatogr 2006 Dec;20(12):1386-9. doi: 10.1002/bmc.712. PMID: 17080500

Clinical prediction guides

Nicholson JK, O'Flynn MP, Sadler PJ, Macleod AF, Juul SM, Sönksen PH
Biochem J 1984 Jan 15;217(2):365-75. doi: 10.1042/bj2170365. PMID: 6696735Free PMC Article

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