Molybdenum cofactor deficiency

Atwal, Paldeep S.; Scaglia, Fernando

doi:10.1016/j.ymgme.2015.11.010

Cited by 81 publications

(73 citation statements)

References 27 publications

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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%

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

Huijmans

Schot

Klerk

et al. 2017

American J of Med Genetics Pt A

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We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein. MOCS3 is the third protein, besides MOCS1 and MOCS2, involved in the biosynthesis of the molybdenum cofactor and has a dual ubiquitin-like function in tRNA thiolation. It is plausible that the phenotype results from deficiency of this dual function, not only from defective synthesis of molybdenum cofactor, which would explain similarities and differences from the MOCS1 and MOCS2-related disorders. This observation should encourage testing of additional ID patients with mild abnormalities of sulfite metabolism for MOCS3 mutations.

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Section: Introductionmentioning

confidence: 99%

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

Huijmans

Schot

Klerk

et al. 2017

American J of Med Genetics Pt A

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“…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%

Status Dystonicus: A Rare Presentation of Molybdenum Cofactor Deficiency

et al. 2017

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Molybdenum cofactor deficiency (MOCOD) is a severe inborn error of metabolism. It is characterized by neonatal presentation of intractable seizures, feeding difficulties, severe developmental delay, microcephaly with brain atrophy and coarse facial features. Movement disorders have been rarely reported as presenting complaint of MOCOD. We report a previously healthy 10 months old boy presenting with acute onset status dystonicus. A novel homozygote IVS1-1G>A (c.251-1G>A) mutation was determined and he was diagnosed as MOCOD. MOCOD must be considered in the differential diagnosis of movement disorders.

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“…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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Anorganski spojevi sumpora u ljudskom tijelu. I. Okso-spojevi.

Stanković¹,

Kiralj²

2017

Kem. Ind.

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Ovo djelo je dano na korištenje pod Creative Commons Attribution 4.0International License Veleučilište u Bjelovaru, Trg Eugena Kvaternika 4, 43 000 Bjelovar, Hrvatska Sažetak Sumpor je nakon kalcija i fosfora najzastupljeniji element u ljudskom tijelu, gdje se nalazi u mnogobrojnim anorganskim i organskim spojevima, a u vrlo malim količinama i u elementarnom stanju. U ovom pregledu prikazani su anorganski spojevi sumpora iz klase endogenih okso-spojeva u ljudskom organizmu, koji ponajprije nastaju enzimskim i neenzimskim biosintetskim putevima u stanicama ili izvanstaničnom prostoru. Opisani su sulfati, tiosulfati, μ-disulfido-bis(trioksosulfati)(2-) (tetrationati), sulfiti, hidrogensulfiti, sulfonati i disulfiti najzastupljenijih metala u organizmu (Na, Ca 2+ i Mg 2+ ) i sumporov dioksid. Anioni i SO 2 jesu endogene neradikalske sumporove vrste koje se nalaze u znatnim koncentracijama u tjelesnim tekućinama, gdje imaju zasebne fiziološke, patološke, metaboličke, detoksikacijske i druge uloge. Međusobno su povezani metaboličkim putevima sumporovih spojeva. Dok je sulfatni ion redovit sastojak elektrolita i izvor sumpora, tiosulfatni ion ima brojne zaštitne funkcije i važan je metabolit, a anioni nastali reakcijom SO 2 i vode također su važni metabolički među-produkti. Novijim istraživanjima prepoznate su uloge sumporova dioksida kao nove signalne molekule i aniona μ-disulfido-bis(trioksosulfata)(2-), kao metabolita koji se stvara tijekom upale crijeva. Istraživanja o opisanoj klasi sumporovih spojeva i njihovoj važnosti za ljudski organizam očito nisu završena i mogu još donijeti važne i neočekivane spoznaje.

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Molybdenum cofactor deficiency

Cited by 81 publications

References 27 publications

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

Status Dystonicus: A Rare Presentation of Molybdenum Cofactor Deficiency

Anorganski spojevi sumpora u ljudskom tijelu. I. Okso-spojevi.

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