Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Schwahn, Bernd; Spronsen, Francjan van; Belaidi, Abdel Ali; Bowhay, Stephen; Christodoulou, John; Derks, Terry G J; Hennermann, Julia B.; Jameson, Elisabeth; König, Kai; McGregor, Tracy L.; Font–Montgomery, Esperanza; Santamaria-Araujo, José Angel; Santra, Saikat; Vaidya, Mamta; Vierzig, Anne; Wassmer, Evangeline; Weis, I; Wong, Flora Yuen-Wait; Veldman, Alex; Schwarz, Günter

doi:10.1016/s0140-6736(15)00124-5

Cited by 125 publications

(112 citation statements)

References 21 publications

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“…Treatment with cPMP normalized biomarkers and arrested neurodegeneration in a mouse model and in MoCD patients (19)(20)(21). In our recent prospective study (19), a remarkable clinical benefit was observed in patients treated soon after birth, who exhibited near-normal development. Treatment was less effective in patients who received delayed treatment (days to weeks after the manifestation of neurodegenerative symptoms) (19).…”

Section: Introductionmentioning

confidence: 74%

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S-sulfocysteine/NMDA receptor–dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency

Kumar¹,

Dejanovic²,

Hetsch³

et al. 2017

Journal of Clinical Investigation

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Section: Introductionmentioning

confidence: 74%

“…We introduced cyclic pyranopterin monophosphate (cPMP), the biosynthetic intermediate of Moco, as a new therapy for patients with MOCS1 mutations (19). Treatment with cPMP normalized biomarkers and arrested neurodegeneration in a mouse model and in MoCD patients (19)(20)(21).…”

Section: Introductionmentioning

confidence: 99%

S-sulfocysteine/NMDA receptor–dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency

Kumar¹,

Dejanovic²,

Hetsch³

et al. 2017

Journal of Clinical Investigation

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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%

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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“…In a subsequent study cPMP treatment of a type A patient was started 4 h after birth, which resulted in a complete suppression and even reversal of symptoms typical for MoCo deficiency [46]. A prospective cohort study with a total of 16 patients confirmed that cPMP substitution is most effective in type A patients if started before onset of symptoms, but is ineffective in type B patients with pathogenic MOCS2 mutations [47].…”

Section: Clinical Studiesmentioning

confidence: 96%

Molybdenum Cofactor and Sulfite Oxidase Deficiency

Reiss¹

2016

Mol Biol (Los Angel)

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A universal molybdenum-containing cofactor is necessary for the activity of all eukaryotic molybdoenzymes. In humans four such enzymes are known: Sulfite oxidase, xanthine oxidoreductase, aldehyde oxidase and a mitochondrial amidoxime reducing component. Of these, sulfite oxidase is the most important and clinically relevant one. Mutations in the genes MOCS1, MOCS2 or GPHN -all encoding cofactor biosynthesis proteins -lead to molybdenum cofactor deficiency type A, B or C, respectively. All three types plus mutations in the SUOX gene responsible for isolated sulfite oxidase deficiency lead to progressive neurological disease which untreated in most cases leads to death in early childhood. Currently, only for type A of the cofactor deficiency an experimental treatment is available.

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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Cited by 125 publications

References 21 publications

S-sulfocysteine/NMDA receptor–dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency

S-sulfocysteine/NMDA receptor–dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency

Status Dystonicus: A Rare Presentation of Molybdenum Cofactor Deficiency

Molybdenum Cofactor and Sulfite Oxidase Deficiency

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