Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Ontology highlight
ABSTRACT: Background
Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern.Methods
We report ASD deficiency in a 2- and 4-year-old sibling. On them, we described clinical, biochemical, and molecular findings, and we compared our results with previously reported cases.Results
We identified a homozygous novel missense mutation in ASNS gene in both probands and we demonstrated low CSF and plasma asparagine in both patients.Conclusions
Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low.
SUBMITTER: Alfadhel M
PROVIDER: S-EPMC4486270 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel Majid M Alrifai Muhammad Talal MT Trujillano Daniel D Alshaalan Hesham H Al Othaim Ali A Al Rasheed Shatha S Assiri Hussam H Alqahtani Abdulrhman A AA Alaamery Manal M Rolfs Arndt A Eyaid Wafaa W
JIMD reports 20150208
<h4>Background</h4>Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern.<h4>Methods</h4>We report ASD deficiency in a 2- and 4-year-old sibling. On them, we described clinical, biochemical, and molecular findings, and we compared our results w ...[more]
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