Adenosine Kinase Deficiency: Report and Review

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• Adenosine kinase (ADK) deficiency is an autosomal recessive disorder impacting adenosine and methionine metabolism.
• It presents with central nervous system involvement, dysmorphic features, and early-onset symptoms like sepsis, respiratory distress, and jaundice.

Observation:

• A 4-year-old Saudi female presented with global developmental delay, hypotonia, dysmorphic features, tall stature, hip dysplasia, optic gliosis, and tigroid fundus.
• This case highlights a previously unreported mutation in the ADK gene.

Findings:

• Diagnosis of ADK deficiency is confirmed by molecular analysis of the ADK gene, revealing elevated methionine with normal homocysteine levels.
• The study identified a novel mutation in a patient with a unique clinical presentation.

Implications:

• Clinicians should consider ADK deficiency in neonates with global developmental delay, hypotonia, dysmorphic features, and elevated methionine.
• While no cure exists, a methionine-restricted diet shows variable outcomes, emphasizing the need for further research and early intervention strategies.