Understanding and Managing Infantile PHGDH Deficiency: A Case Report

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Phosphoglycerate dehydrogenase deficiency is a rare neurometabolic condition.
• It presents with severe neurological symptoms like microcephaly, developmental delay, and seizures.
• These symptoms can be mistaken for cerebral palsy.

Purpose of the Study:

• To report a case of phosphoglycerate dehydrogenase deficiency in a young child.
• To highlight the importance of considering treatable neurometabolic disorders in patients with cerebral palsy-like symptoms.
• To demonstrate the efficacy of serine and glycine supplementation.

Main Methods:

• Clinical case presentation of a 2.5-year-old boy.
• Genetic testing to identify a pathogenic variant in the PHGDH gene.
• Biochemical analysis of serine levels and monitoring treatment response.

Main Results:

• A homozygous variant c.1129G>A in the PHGDH gene was identified.
• The patient presented with microcephaly, speech delay, seizures, and hyperactivity.
• Treatment with oral serine and glycine led to seizure control and developmental catch-up.

Conclusions:

• Phosphoglycerate dehydrogenase deficiency is a treatable cause of severe neurological impairment.
• Early diagnosis through genetic and biochemical testing is crucial.
• Prompt treatment with serine and glycine can significantly improve patient outcomes, averting misdiagnosis as cerebral palsy.