3-methylglutaconic aciduria type 8
A rare organic aciduria characterized by neonatal onset of hypotonia recurrent apneic episodes lack of psychomotor development feeding difficulties extrapyramidal signs and seizures. Other reported features include microcephaly sensorineural deafness bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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3-methylglutaconic aciduria type 8?
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