Ann Neurol. 1993 Jan;33(1):103-4.

3-Methylglutaconic aciduria in "optic atrophy plus".

Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N.

Source

Neuropediatric Unit, Loewenstein Hospital, Raanana, Israel.

Abstract

Behr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such as ataxia, extrapyramidal dysfunction, and juvenile spastic paresis. This syndrome was found to be relatively common among Iraqi Jews. For our study, 18 such patients underwent metabolic study. All 18 showed abnormally elevated excretion of 3-methylglutaconic acid in their urine. The basic enzymatic defect is as yet unknown. We recommend that patients with early optic atrophy, and especially those with motor dysfunction, be examined for this organic aciduria.

PMID:: 8494328; [PubMed - indexed for MEDLINE]

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3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome. [Dev Med Child Neurol. 1994]
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
Elpeleg ON, Costeff H, Joseph A, Shental Y, Weitz R, Gibson KM. Dev Med Child Neurol. 1994 Feb; 36(2):167-72.
Behr's syndrome and 3-methylglutaconic aciduria. [Am J Ophthalmol. 1992]
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Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D. Am J Ophthalmol. 1992 Oct 15; 114(4):494-7.
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. [Hum Mol Genet. 1997]
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC. Hum Mol Genet. 1997 Apr; 6(4):563-9.
Review Costeff optic atrophy syndrome: new clinical case and novel molecular findings. [J Inherit Metab Dis. 2008]
Review Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G, Walter JH, Christodoulou J. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S419-23. Epub 2008 Nov 7.
Review Multiple syndromes of 3-methylglutaconic aciduria. [Pediatr Neurol. 1993]
Review Multiple syndromes of 3-methylglutaconic aciduria.
Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI. Pediatr Neurol. 1993 Mar-Apr; 9(2):120-3.

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Cited by 1 PubMed Central article

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. [Mol Genet Metab. 2010]
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. Mol Genet Metab. 2010 Jun; 100(2):149-54. Epub 2010 Mar 16.

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