Optic neuropathy in classical methylmalonic acidemia

Al‐Owain, Mohammed; Khalifa, Ola; Sahlawi, Zahra Al; Hussein, Maged H.; Sulaiman, Raashda A.; Al-Sayed, Moeen; Rahbeeni, Zuhair; Al‐Hassnan, Zuhair N.; Alzaidan, Hamad; Nezzar, Hachemi; Homoud, Iftetah Al; Eldali, Abdelmoneim; Altonen, Brian; Handoom, Bedour; Mbekeani, Joyce N.

doi:10.1080/13816810.2019.1634740

Cited by 3 publications

(2 citation statements)

References 28 publications

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“…According to the results of a recent meta-analysis including 22 case-control studies with 1614 with glaucoma and 1319 healthy controls, some biomarkers increased in glaucomatous aqueous humor such as superoxide dismutase and glutathione peroxidase. In addition, high levels of Methylmalonic acid were also found to increase the risk of optic neuropathy [25][26][27].…”

Section: Discussionmentioning

confidence: 99%

Differential metabolic markers associated with primary open-angle glaucoma and cataract in human aqueous humor

Pan

Chen

et al. 2020

BMC Ophthalmol

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Background We aimed to identify metabolic biomarkers and investigate the metabolic alterations in relation to primary open-angle glaucoma (POAG) and cataract in human aqueous humor. Methods Sixteen POAG patients undergoing surgical treatments and 24 patients undergoing cataract surgeries were included in this case-control study. We performed the metabolomic analysis of aqueous humor samples using a non-targeted gas chromatography coupled to time-of-flight mass spectrometer. The area under the receiver operating characteristic curve (AUC) was computed to assess the discrimination capacities of each metabolite marker. Databases including the Kyoto Encyclopedia of Genes and Genomes (KEGG) and MetaboAnalyst were utilized to search for the potential pathways of metabolites. Results Aqueous humor metabolomic profiles could well distinguish POAG from controls. Fourteen metabolic biomarkers were identified as potential aqueous humor biomarkers for POAG, yielding AUC values from 0.62 to 0.86. In pathway analysis, Biotin metabolism was highly impacted, implying that these metabolic markers play important roles in the regulation of this pathway. Conclusions This study identified valuable metabolic biomarkers and pathways that may facilitate an improved understanding of the POAG pathogenesis. The finding holds translational value in the development of new therapeutic measures for POAG.

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Section: Discussionmentioning

confidence: 99%

Differential metabolic markers associated with primary open-angle glaucoma and cataract in human aqueous humor

Pan

Chen

et al. 2020

BMC Ophthalmol

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“…These complications include encephalopathy, hydrocephalus ( Zhang et al, 2019 ), optic neuropathy and retinopathy ( Alowain et al, 2019 ), pulmonary hypertension, late-onset diffuse lung disease, cardiorespiratory disease ( Liu et al, 2017 ; Zhang et al, 2020 ), proteinuria, renal thrombotic microangiopathy, and kidney function decline ( Chen et al, 2020 ; Liu et al, 2017 ). Thereby, the late-onset cblC patients should be treated perpetually with hydroxocobalamin supplement and routine metabolic monitoring.…”

Section: Discussionmentioning

confidence: 99%

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Cheng

Chen²,

Zhao³

et al. 2022

Front. Genet.

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Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presented with depression identified with the MMACHC gene. We summarized the clinical features of the cblC defect, the relationship between genotype and phenotype, and the clinical experience concerning the diagnosis and treatment of the cblC defect.Case presentation: Initially presented with depression, the 16-year-old female patient showed progressive abnormal gait and bilateral lower limb weakness after 3 months. Blood routine examination suggested severe hyperhomocysteinemia, and screening for urine organic acids found elevated methylmalonic acid. Family gene sequencing showed mutations detected in MMACHC. She had a compound heterozygous mutation, while the c.271dupA (p.R91Kfs∗14) was only detected in her father and the c.482 G>A (p.R161Q) was only detected in her mother. Hence, she was diagnosed with a cblC defect and treated with B vitamin supplements. The muscle strength of both lower limbs improved notably.Conclusion: This case indicated that depression could be a presenting sign of cblC-type methylmalonic aciduria and homocysteinemia, and enhanced the genotype–phenotype relationship of the cblC defect, which will contribute to further understanding of this emerging disease.

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Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review

et al. 2021

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Optic neuropathy in classical methylmalonic acidemia

Cited by 3 publications

References 28 publications

Differential metabolic markers associated with primary open-angle glaucoma and cataract in human aqueous humor

Differential metabolic markers associated with primary open-angle glaucoma and cataract in human aqueous humor

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review

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