Vitamin B6-Responsive Ornithine Aminotransferase Deficiency with a Novel Mutation G237D

Ohkubo, Yumiko; Ueta, Akihito; Ito, Tetsuya; Sumi, Satoshi; Yamada, Mari; Ozawa, K; Togari, Hajime

doi:10.1620/tjem.205.335

Cited by 26 publications

(11 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In some GA patients, enlargement of the atrophic area was found without any increase in the plasma level of L-Orn. 13,[18][19][20] In addition, L-Orn-loaded GA relatives and patients of HHH syndrome did not develop retinal degeneration, although the plasma concentration of them were 600-1100 µM. 31) Thus, it is unlikely that only L-Orn accumulation in the plasma would be a direct cause of RPE degeneration in GA.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Effect of Long-Term Treatment of L-Ornithine on Visual Function and Retinal Histology in the Rats

et al. 2015

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

“…17,18) In other patients, enlargement of the atrophic area was found despite biochemical control of the plasma level of L-Orn. 13,19) Furthermore, cases of GA-like traits have been reported without any increase in the plasma level of L-Orn. 20,21) Thus, it has been unclear whether L-Orn accumulation in the plasma is a direct cause of RPE degeneration in GA.…”

mentioning

confidence: 99%

Effect of Long-Term Treatment of L-Ornithine on Visual Function and Retinal Histology in the Rats

et al. 2015

View full text Add to dashboard Cite

“…Recently, it has been suggested that increase of ornithine levels might be involved in vigabatrin-associated visual field defects (Roubertie et al 1998;Sorri et al 2010) as a result of ornithine-d-aminotransferase (OAT) impairment. In some patients with gyrate atrophy, vitamin B6 substitution has been successfully employed to prevent the loss of vision (Wang et al 2000;Ohkubo et al 2005;Sorri et al 2010). In line with this observation, and in order to prevent a worsening of the visual defect, we implemented a pyridoxine supplementation (300 mg/day) in conjunction with the same dosage of vigabatrin.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency

Casarano¹,

Alessandrı̀²,

Salomons³

et al. 2011

JIMD Reports

View full text Add to dashboard Cite

We report a patient with succinic semialdehyde dehydrogenase deficiency who presented a mild phenotype including developmental language delay, in association with the typical elevations of 4-hydroxybutyric acid (GHB) in biological fluids and MRI alterations. Two pathogenic mutations were identified one transversion (c.278 G>T) in exon 1 and another (c.1557 T>G) in exon 10. Both parents are carriers of one of the mutations, confirming compound-heterozygosity in their affected child. To reduce the GHB levels in body fluids, a treatment with vigabatrin at low dose (25 mg/kg per day) was started, monitoring its efficacy by clinical and neurochemical follow-up. After 9 months of therapy with vigabatrin, a significant reduction of GHB concentrations in urine and CSF was observed; after 36 months, a significant improvement of communicative skills, not previously reported, was referred. These results support the hypothesis that the clinical improvement is correlated to the reduction in the GHB levels and the importance of considering the SSADH deficiency in the differential diagnosis of patients with mental retardation and language delay.

show abstract

“…Hyperornithinemia is the primary bioche mical manifestation of OAT deficiency, with a 10 to 20fold higher sys temic level of ornithine in plasma, urine, spinal fluid, and aqueous humor. The cDNA and genomic locus for OAT has been isolated and assig ned to chromosome 10 (2) . Areas of progressive atrophy of the choroid and retina can be ob served in the midperiphery with exposure of the sclera and reduced visual acuity, as poor as 20/200 or worse.…”

Section: Introductionmentioning

confidence: 99%

Retinal detachment and gyrate atrophy of the choroid and retina: case report

Berbel¹,

Rauen²,

Pallone³

et al. 2012

Arq. Bras. Oftalmol.

View full text Add to dashboard Cite

To report a case of gyrate atrophy of the choroid and retina associated with re tinal detachment. Hyperornithinemia confirmed the diagnosis of gyrate atrophy. Pars plana vitrectomy with silicone oil infusion was performed with good anatomical results, despite the persistence of low visual acuity. Retinal detachment is a rare complication of gyrate atrophy and can be managed with pars plana vitrectomy and silicone oil. We discuss the possible mechanisms that led to low visual acuity. Keywords

show abstract

Vitamin B6-Responsive Ornithine Aminotransferase Deficiency with a Novel Mutation G237D

Cited by 26 publications

References 24 publications

Effect of Long-Term Treatment of L-Ornithine on Visual Function and Retinal Histology in the Rats

Effect of Long-Term Treatment of L-Ornithine on Visual Function and Retinal Histology in the Rats

Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency

Retinal detachment and gyrate atrophy of the choroid and retina: case report

Contact Info

Product

Resources

About