EC Gynaecology

Asparagine synthesise deficiency is rare autosomal recessive nero-metabolic inborn error of metabolism. It mainly presents as triad of congenital microcephaly, severe developmental delay and axial hypotonia followed by spastic quadriplegia. It can manifest as microcephaly, intractable seizures and progressive cerebral atrophy. This disorder can only be diagnosed by genetic testing. Recessive mutations in ASNS are responsible for severe neurological phenotype characterised by progressive microcephaly and developmental delay.

Keywords: ASNS Deficiency; Autosomal Recessive; Microcephaly

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