Global Developmental Delay: Major Clinical Manifestation of Sepiapterin Reductase Deficiency in a Child

Sepiapterin reductase deficiency can be present with developmental delay and hypotonia. Routine metabolic screening tests usually do not detect the disease. Here we present two cases of this rare disease. This is a report of two siblings that index case had global developmental delay and severe hypotonia and her unaffected brother with Sepiapterin reductase deficiency. DNA analysis showed a homozygous novel missense variant (c.40G> C/ p.Gly14Arg on Chr2:73114601) and both parents were heterozygous for abovementioned gene. Some metabolic disorders such as Sepiapterin reductase deficiency may present with global developmental delay and not be detected in routine screening. DNA analysis can find mutations and lead to definite diagnosis.

کلیدواژه ها:

Developmental delay ، Mutations ، Sepiapterin reductase deficiency