PMID- 37789894
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231030
IS  - 1664-2295 (Print)
IS  - 1664-2295 (Electronic)
IS  - 1664-2295 (Linking)
VI  - 14
DP  - 2023
TI  - A milder form of molybdenum cofactor deficiency type A presenting as Leigh's 
      syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a 
      case report.
PG  - 1214137
LID - 10.3389/fneur.2023.1214137 [doi]
LID - 1214137
AB  - 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.
CI  - Copyright (c) 2023 Almudhry, Prasad, Rupar, Tay, Ratko, Jenkins and Prasad.
FAU - Almudhry, Montaha
AU  - Almudhry M
AD  - London Health Sciences Centre, London, ON, Canada.
AD  - Department of Neuroscience, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
FAU - Prasad, Asuri N
AU  - Prasad AN
AD  - London Health Sciences Centre, London, ON, Canada.
AD  - Department of Pediatrics, Western University, London, ON, Canada.
AD  - Department of Clinical Neurological Sciences, Western University, London, ON, 
      Canada.
FAU - Rupar, C Anthony
AU  - Rupar CA
AD  - London Health Sciences Centre, London, ON, Canada.
AD  - Department of Pediatrics, Western University, London, ON, Canada.
AD  - Department of Biochemistry, Western University, London, ON, Canada.
FAU - Tay, Keng Yeow
AU  - Tay KY
AD  - London Health Sciences Centre, London, ON, Canada.
AD  - Department of Medical Imaging, Western University, London, ON, Canada.
FAU - Ratko, Suzanne
AU  - Ratko S
AD  - London Health Sciences Centre, London, ON, Canada.
FAU - Jenkins, Mary E
AU  - Jenkins ME
AD  - London Health Sciences Centre, London, ON, Canada.
AD  - Department of Clinical Neurological Sciences, Western University, London, ON, 
      Canada.
FAU - Prasad, Chitra
AU  - Prasad C
AD  - London Health Sciences Centre, London, ON, Canada.
AD  - Department of Pediatrics, Western University, London, ON, Canada.
LA  - eng
PT  - Case Reports
DEP - 20230915
PL  - Switzerland
TA  - Front Neurol
JT  - Frontiers in neurology
JID - 101546899
PMC - PMC10542394
OTO - NOTNLM
OT  - Leigh-like phenotype
OT  - MOCS1
OT  - dystonia
OT  - molybdenum cofactor deficiency
OT  - stroke
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/10/04 06:43
MHDA- 2023/10/04 06:44
PMCR- 2023/09/15
CRDT- 2023/10/04 03:55
PHST- 2023/04/29 00:00 [received]
PHST- 2023/08/18 00:00 [accepted]
PHST- 2023/10/04 06:44 [medline]
PHST- 2023/10/04 06:43 [pubmed]
PHST- 2023/10/04 03:55 [entrez]
PHST- 2023/09/15 00:00 [pmc-release]
AID - 10.3389/fneur.2023.1214137 [doi]
PST - epublish
SO  - Front Neurol. 2023 Sep 15;14:1214137. doi: 10.3389/fneur.2023.1214137. 
      eCollection 2023.