Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations : Implications for the diagnosis and follow-up of serine biosynthesis disorders
The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on decreased concentrations of serine in cerebrospinal fluid (CSF). It has previously