Molybdenum cofactor deficiency due to MOCS2 mutation

C. Allgood; R. Chin; M. Edwards; J. Roeper; J. A. Santamaria; G. Schwarz; J. Whitehall; F. Wong

doi:10.1017/thg.2013.90

Molybdenum cofactor deficiency due to MOCS2 mutation

C. Allgood, R. Chin, M. Edwards, J. Roeper, J. A. Santamaria, G. Schwarz, J. Whitehall, F. Wong

School of Medicine

Research output: Chapter in Book / Conference Paper › Conference Paper › peer-review

10 Citations (Scopus)

Abstract

Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite oxidase. Cyclic pyranopterin mononophosphate (cPMP), the first intermediate in molybdenum cofactor synthesis, is absent in patients with mutations in MOCS1 gene, while it is elevated in patients with MOCS2 mutations. Mutations in MOCS1 (complementation group A) cause about 2/3 of cases, and are potentially treatable with cPMP. Mutations in MOCS2 are found in complementation group B. A mutation in the GEPHYRIN gene was found in one case in complementation group C.

Original language	English
Title of host publication	Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012
Publisher	Cambridge University Press
Pages	584-
Number of pages	1
DOIs	https://doi.org/10.1017/thg.2013.90
Publication status	Published - 2012
Event	Human Genetics Society of Australasia. Scientific Meeting - Duration: 1 Jan 2012 → …

Conference

Conference	Human Genetics Society of Australasia. Scientific Meeting
Period	1/01/12 → …

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10.1017/thg.2013.90

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Allgood, C., Chin, R., Edwards, M., Roeper, J., Santamaria, J. A., Schwarz, G., Whitehall, J., & Wong, F. (2012). Molybdenum cofactor deficiency due to MOCS2 mutation. In Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012 (pp. 584-). Cambridge University Press. https://doi.org/10.1017/thg.2013.90

@inproceedings{b71e20b0295f468a8f278d9482e0da8a,

title = "Molybdenum cofactor deficiency due to MOCS2 mutation",

abstract = "Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite oxidase. Cyclic pyranopterin mononophosphate (cPMP), the first intermediate in molybdenum cofactor synthesis, is absent in patients with mutations in MOCS1 gene, while it is elevated in patients with MOCS2 mutations. Mutations in MOCS1 (complementation group A) cause about 2/3 of cases, and are potentially treatable with cPMP. Mutations in MOCS2 are found in complementation group B. A mutation in the GEPHYRIN gene was found in one case in complementation group C.",

author = "C. Allgood and R. Chin and M. Edwards and J. Roeper and Santamaria, {J. A.} and G. Schwarz and J. Whitehall and F. Wong",

year = "2012",

doi = "10.1017/thg.2013.90",

language = "English",

pages = "584--",

booktitle = "Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012",

publisher = "Cambridge University Press",

note = "Human Genetics Society of Australasia. Scientific Meeting ; Conference date: 01-01-2012",

}

Allgood, C, Chin, R, Edwards, M, Roeper, J, Santamaria, JA, Schwarz, G, Whitehall, J & Wong, F 2012, Molybdenum cofactor deficiency due to MOCS2 mutation. in Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012. Cambridge University Press, pp. 584-, Human Genetics Society of Australasia. Scientific Meeting, 1/01/12. https://doi.org/10.1017/thg.2013.90

TY - GEN

T1 - Molybdenum cofactor deficiency due to MOCS2 mutation

AU - Allgood, C.

AU - Chin, R.

AU - Edwards, M.

AU - Roeper, J.

AU - Santamaria, J. A.

AU - Schwarz, G.

AU - Whitehall, J.

AU - Wong, F.

PY - 2012

Y1 - 2012

N2 - Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite oxidase. Cyclic pyranopterin mononophosphate (cPMP), the first intermediate in molybdenum cofactor synthesis, is absent in patients with mutations in MOCS1 gene, while it is elevated in patients with MOCS2 mutations. Mutations in MOCS1 (complementation group A) cause about 2/3 of cases, and are potentially treatable with cPMP. Mutations in MOCS2 are found in complementation group B. A mutation in the GEPHYRIN gene was found in one case in complementation group C.

AB - Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite oxidase. Cyclic pyranopterin mononophosphate (cPMP), the first intermediate in molybdenum cofactor synthesis, is absent in patients with mutations in MOCS1 gene, while it is elevated in patients with MOCS2 mutations. Mutations in MOCS1 (complementation group A) cause about 2/3 of cases, and are potentially treatable with cPMP. Mutations in MOCS2 are found in complementation group B. A mutation in the GEPHYRIN gene was found in one case in complementation group C.

UR - http://handle.uws.edu.au:8081/1959.7/546133

U2 - 10.1017/thg.2013.90

DO - 10.1017/thg.2013.90

M3 - Conference Paper

SP - 584-

BT - Abstracts for the 36th Human Genetics Society of Australasia Annual Scientiﬁc Meeting, Canberra, Australia, July 22–25, 2012

PB - Cambridge University Press

T2 - Human Genetics Society of Australasia. Scientific Meeting

Y2 - 1 January 2012

ER -

Molybdenum cofactor deficiency due to MOCS2 mutation

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