A Turkish case with molybdenum cofactor deficiency.

Abstract	Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS)1 gene, MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which produces arginine insertion at codon 222 of MOCS1A. The parents, his brother and his sister who did not have any symptoms were heterozygous for the same mutation. This region was highly conserved in various species. The N-terminal part of MOCS1 a protein is suggested to form the central core of the protein and be composed of an incomplete [(alpha/beta)6] triosephosphate isomerase (TIM) barrel with a lateral opening that is covered by the C-terminal part of the protein. The insertion is located in the loop connecting the fifth beta strand to the sixth alpha helices of the TIM barrel structure. This arginine insertion would induce the conformation change and the lack of the activity.
Authors	K Ichida, H Ibrahim Aydin, M Hosoyamada, H Serap Kalkanoglu, A Dursun, I Ohno, T Coskun, A Tokatli, T Shibasaki, T Hosoya
Journal	Nucleosides, nucleotides & nucleic acids (Nucleosides Nucleotides Nucleic Acids) Vol. 25 Issue 9-11 Pg. 1087-91 ( 2006) ISSN: 1525-7770 [Print] United States
PMID	17065069 (Publication Type: Case Reports, Journal Article)
Chemical References	Carrier Proteins Coenzymes Membrane Proteins Metalloproteins Molybdenum Cofactors Nuclear Proteins Pteridines gephyrin Arginine molybdenum cofactor MOCS3 protein, human Nucleotidyltransferases Sulfurtransferases molybdopterin synthase Carbon-Carbon Lyases MOCS1 protein, human
Topics	Arginine (metabolism) Carbon-Carbon Lyases Carrier Proteins (genetics) Child Coenzymes (deficiency) Heterozygote Homozygote Humans Male Membrane Proteins (genetics) Metalloproteins (deficiency) Molybdenum Cofactors Mutation Neurodegenerative Diseases (diagnosis, genetics) Nuclear Proteins (chemistry, genetics) Nucleotidyltransferases (genetics) Protein Structure, Secondary Pteridines Sequence Analysis, DNA Sulfurtransferases (genetics)

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