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- W4386836368 abstract "Background Molybdenum cofactor deficiency (MoCD) (OMIM # 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway. Objectives We report a milder phenotype in a patient with MOCS1 gene mutation who presented with a Leigh-like presentation. Case report We 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. Conclusion This presentation expands the phenotypic variability of late-onset MoCD A and highlights the role of secondary mitochondrial dysfunction in its pathogenesis." @default.
- W4386836368 created "2023-09-19" @default.
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- W4386836368 date "2023-09-15" @default.
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- W4386836368 title "A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report" @default.
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- W4386836368 doi "https://doi.org/10.3389/fneur.2023.1214137" @default.
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