2016
DOI: 10.1016/j.ymgme.2015.11.010
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Molybdenum cofactor deficiency

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Cited by 81 publications
(73 citation statements)
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“…Many patients die at young age. For reviews see (Atwal & Scaglia, ; Reiss & Hahnewald, ; Zaki et al, ). Up to now only patients have been described with mutations in MOCS1 , MOCS2 , or GPHN .…”
Section: Introductionmentioning
confidence: 99%
“…Many patients die at young age. For reviews see (Atwal & Scaglia, ; Reiss & Hahnewald, ; Zaki et al, ). Up to now only patients have been described with mutations in MOCS1 , MOCS2 , or GPHN .…”
Section: Introductionmentioning
confidence: 99%
“…In our case, pharmacological therapy by baclofen was (4 mg/kg/day) successful and our patient improved. There is no definitive treatment of MOCOD [3,14]. The present case was not followed and died within 3 months.…”
Section: Discussionmentioning
confidence: 66%
“…The functions of three enzymes, sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase altered. Patients typically present with neonatal seizure, severe neurodevelopmental delay, epileptic encephalopathy, lens dislocation, feeding difficulties and dysmorphias [3]. Movement disorders have been rarely reported as presenting complaint of MOCOD [4][5][6].…”
Section: Introductionmentioning
confidence: 99%
“…133 Sulfitni test urina 134 služi za utvrđivanje rijetkih nasljednih metaboličkih bolesti -deficijencije enzima SO (sulfit-oksidaze) 135 i deficijencije njegova molibdenskog kofaktora (kompleksni spoj piranopterin-ditiolata i molibdena). 136 Posljedice genetičkih mutacija jesu pogreške u primarnoj strukturi enzima SO te pogreške u enzimima koji sintetiziraju molibdenski kofaktor. Krajnji ishod je nefunkcionalni enzim i posljedično nakupljanje sulfita i tiosulfata, koji nastaje redukcijom sulfita u biosintetskim putevima 1 i 2 da se djelomično kompenzira nakupljanje sulfata (slika 7).…”
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