Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

Yan, Wenjia; Huang, Li Jiau; Sun, Limei; Ding, Xiaoyan

doi:10.1016/j.ajoc.2022.101586

Cited by 2 publications

(4 citation statements)

References 30 publications

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“…The biochemical profiles of the late-onset form are marked by the same metabolic derangements as that of the early-onset form, including elevated S-sulfocysteine and low uric acid levels. Nevertheless, brain scans show changes limited to the basal ganglia and dentate nucleus in delayed presentations, as opposed to the extensive MRI abnormalities in the neonatal form (6,17,18).…”

Section: Discussionmentioning

confidence: 99%

“…There are only a few reports on patients with atypical late-onset MoCD. These highlight variable neurological and ocular presentations and radiological findings ( 5 , 6 ). Typical Leigh syndrome-like findings represent an expanding heterogenic mitochondrial disease phenotype in early infancy, with psychomotor delay, encephalopathy, movement disorders, and breathing irregularities.…”

Section: Introductionmentioning

confidence: 99%

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A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

Almudhry,

Prasad,

Rupar

et al. 2023

Front. Neurol.

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BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient with MOCS1 gene mutation who presented with a Leigh-like presentation.Case reportWe present the case of a 10-year-old boy who was symptomatic at the age of 5 months with sudden onset of dyskinesia, nystagmus, and extrapyramidal signs following a febrile illness. Initial biochemical, radiological, and histopathological findings a Leigh syndrome-like phenotype; however, whole-exome sequencing detected compound heterozygous mutations in MOCS1 gene, c.1133 G>C and c.217C>T, confirming an underlying MoCD. This was biochemically supported by low uric acid level of 80 (110–282 mmol/L) and low cystine level of 0 (3–49), and a urine S-sulfocysteine at 116 (0–15) mmol/mol creatinine. The patient was administered methionine- and cystine-free formulas. The patient has remained stable, with residual intellectual, speech, and motor sequelae.ConclusionThis presentation expands the phenotypic variability of late-onset MoCD A and highlights the role of secondary mitochondrial dysfunction in its pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

Almudhry,

Prasad,

Rupar

et al. 2023

Front. Neurol.

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“…This can lead to raised intra-ocular pressure and clinical symptoms of acute glaucoma. 121 Gross accumulation of xanthine and hypoxanthine is observed in MoCD. Xanthine concentrations in urine easily exceed solubility thresholds.…”

Section: Ongoing Surveillance For Specific Complicationsmentioning

confidence: 97%

“…Lens dislocation can occur in ISOD or MoCD after infancy. This can lead to raised intra‐ocular pressure and clinical symptoms of acute glaucoma 121 …”

Section: Disease Course Treatment and Ongoing Surveillancementioning

confidence: 99%

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Schwahn,

van Spronsen,

Misko

et al. 2024

J of Inher Metab Disea

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Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests. There is significant variation in survival and in the quality of symptomatic management of affected children. One of the four disorders, molybdenum cofactor deficiency type A (MoCD‐A) has recently become amenable to causal treatment with synthetic cPMP (fosdenopterin). The evidence base for the rational use of cPMP is very limited. This prompted the formulation of these clinical guidelines to facilitate diagnosis and support the management of patients. The guidelines were developed by experts in diagnosis and treatment of sulfite intoxication disorders. It reflects expert consensus opinion and evidence from a systematic literature search.

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Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

Cited by 2 publications

References 30 publications

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

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