3-Methylglutaconic Aciduria: A New Variant

Zeharia, Avraham; Elpeleg, Orly; Mukamel, Masza; Weitz, Raphael; Ariel, Raya; Mimouni, Marc

doi:10.1542/peds.89.6.1080

Pediatrics

1992

DOI: 10.1542/peds.89.6.1080

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3-Methylglutaconic Aciduria: A New Variant

Avraham Zeharia¹,

Orly Elpeleg²,

Masza Mukamel³

et al.

Abstract: 3-Methylglutaconic aciduria has been described in two distinct syndromes. In one there was deficient 3-methylglutaconyl coenzyme A hydratase in fibroblast extracts where the only clinical manifestation was retarded speech development. In the second syndrome, the enzyme activity was normal but prominent neurological deterioration was noted. We describe two siblings with 3-methylglutaconic aciduria with normal enzyme activity who had choreoathetoid movements, optic atrophy, and mild developmental delay. The boy … Show more

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Cited by 11 publications

(2 citation statements)

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“…Since Costeff et al first described the phenotype of 19 patients with CS in 1989 (3), several reports described approximately 50 patients, including recent reports from our medical center (1,2,9–12). These reports, however, lack details about the neuro-ophthalmic phenotype, specifically in association with visual field (VF), ocular motility, MRI, and optical coherence tomography (OCT), as well as longitudinal information.…”

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confidence: 99%

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Neuro-Ophthalmic Phenotype of OPA3

Huna‐Baron

Yahalom²,

Anikster³

et al. 2021

Journal of Neuro-Ophthalmology

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Background:Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. Since Costeff described the phenotype of 19 patients in 1989, several reports described approximately 50 patients, but most of them lack details about neuro-ophthalmic phenotype. Our aim was to characterize the clinical neuro-ophthalmic phenotype of this syndrome.Methods:Nine patients underwent meticulous visual function history and medical documents' review. Results of best-corrected visual acuity (VA), color vision, visual field (VF), ocular motility, pupillary reaction, slit-lamp, and dilated fundus examinations were recorded. Optical coherence tomography (OCT) was performed whenever possible.Results::The average VA was 1.4 ± 0.8 logarithm of the minimum angle of resolution. Poor vision was the presenting symptom in 5 patients. Six patients had decreased VA and variable degrees of optic atrophy. Humphrey VF testing of 7 patients revealed generalized depression in 5 and a cecocentral defect in 2. All patients demonstrated dysmetric saccades. Four patients had strabismus, 3 with exotropia, and one with esotropia. Seven patients had nystagmus. Ocular motility abnormality is possibly the result of cerebellar atrophy that was found in MRI studies of our patients. OCT of the retina was possible in 6 patients and revealed retinal nerve fiber layer (RNFL) thinning as well as average retinal thinning. Three patients, in whom ganglion cell layer–inner plexiform layer (IPL) measurement was possible, also showed diffused thinning.Conclusions:This study compiled data regarding neuro-ophthalmic manifestation of OPA 3 Type III patients. Contrary to established literature, poor vision was the presenting symptom in only 50% of our patients. This is the first report of OCT findings in 3MGA patients. The results demonstrated diffused thinning of the RNFL and ganglion cell complex-IPL with correlation to VA, which is in contrast to OPA1 patients in whom the most severe thinning is at the level of the papillomacular bundle. Average retinal thinning was identified at second and third decades of life, possibly resulting from early ganglion cell loss. These results may contribute to visual prognosis, and OCT may help monitor experimental therapies.

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confidence: 99%

“…our medical center (1,2,(9)(10)(11)(12). These reports, however, lack details about the neuro-ophthalmic phenotype, specifically in association with visual field (VF), ocular motility, MRI, and optical coherence tomography (OCT), as well as longitudinal information.…”

mentioning

confidence: 99%

Neuro-Ophthalmic Phenotype of OPA3

Huna‐Baron

Yahalom²,

Anikster³

et al. 2021

Journal of Neuro-Ophthalmology

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Costeff syndrome: clinical features and natural history

et al. 2014

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Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. All patients were examined by a neurologist and signs and symptoms were rated. 28 patients with CS (16 males, 21 families, age at last observation 28.6 ± 16.1 years, range 0.5-68 years) were included. First signs of neurological deficit appeared in infancy or early childhood, with delayed motor milestones, choreiform movements, ataxia and visual disturbances. Ataxia and chorea were the dominant motor features in childhood, but varied in severity among patients and did not seem to worsen with age. Pyramidal dysfunction appeared later and progressed with age (r = 0.71, p < 0.001) leading to spastic paraparesis and marked gait impairment. The course of neurological deterioration was slow and the majority of patients could still walk beyond the fifth decade. While visual acuity seemed to deteriorate, it did not correlate with age. CS is a rare neurogenetic disorder that causes serious disability and worsens with age. Spasticity significantly increases over the years and is the most crucial determinant of neurological dysfunction.

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CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patients

Brismar

Özand

1994

Brain and Development

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3-Methylglutaconic Aciduria: A New Variant

Cited by 11 publications

References 0 publications

Neuro-Ophthalmic Phenotype of OPA3

Neuro-Ophthalmic Phenotype of OPA3

Costeff syndrome: clinical features and natural history

CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patients

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