Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report
oleh: Montaha Almudhry, Montaha Almudhry, Asuri N. Prasad, Asuri N. Prasad, Asuri N. Prasad, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Mary E. Jenkins, Chitra Prasad, Chitra Prasad
Format: | Article |
---|---|
Diterbitkan: | Frontiers Media S.A. 2023-09-01 |
Deskripsi
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.