Skip to Main Content

++

Inborn error of metabolism manifesting as progressive neurodegenerative disorder with psychomotor retardation.

++

The incidence is unknown, but approximately 20 cases have been reported. Transmission is autosomal recessive.

++

The enzymatic defect causing this progressive neurometabolic disorders is yet to be found. l-2-Hydroxyglutaric acid is a stereoisomer of d-2-hydroxyglutaric acid. Elevated levels of l-2-hydroxyglutaric acid are found in the urine, cerebrospinal fluid (CSF), and, to a lesser degree, in the serum. Plasma and CSF levels of lysine are elevated in some of these patients. In most patients, the initial symptoms are a delay of speech, unsupported walk and febrile seizures within the first 2 years of life. Over the following years, mental retardation associated to cerebellar ataxia with or without dystonia, pyramidal signs, and seizures develop. However, onset can be as early as neonatal age or as late as adolescent age. The oldest patient reported with this disorder was 57 years old. MRI scans reveal a consistent pattern with symmetrical subcortical leukoencephalopathy and cerebellar atrophy (vermis more than hemispheres). Furthermore, pathologic changes can—although inconsistently—be detected in the dentate nuclei, putamina, and globus pallidus.

++

Macrocephaly is a common feature, but no other facial anomalies have been reported, so airway management should not be affected. Keep in mind that these patients may be taking antiseizure medication, and potential interaction with other drugs and altered hepatic metabolism can occur.

++

Canavan Syndrome: Progressive leukodystrophy caused by spongy degeneration of the central nervous system. It is uniformly fatal.

++

d-2-Hydroxyglutaric Aciduria: Metabolic disease resulting in abnormal MRI findings and psychomotor retardation, hypotonia, and non neurologic signs.

Barth PG, Hoffmann GF, Jaeken J, et al: l-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol 32:66, 1992.  [PubMed: 1642474]
Fujitake J, Ishikawa Y, Fujii H, et al: l-2-Hydroxyglutaric aciduria: Two Japanese adult cases in one family. J Neurol 246:378, 1999.  [PubMed: 10399870]
Topcu M, Erdem G, Saatci I, et al: Clinical and magnetic resonance imaging features of l-2-hydroxyglutaric acidemia: Report of three cases in comparison with Canavan disease. J Child Neurol 11:373, 1996.  [PubMed: 8877604]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.