A Rare Case of Adenosine Deaminase tRNA-Specific 3 Mutation, Adrenal Insufficiency, and Rhabdomyolysis.

ABSTRACT

Adenosine deaminase t-RNA-specific 3 (ADAT3) gene, present on chromosome 19, encodes for an enzyme responsible for deamination of adenosine to inosine. Individuals with ADAT3 mutation display microcephaly, dysmorphic features, neurological, behavioural, and endocrinal pathologies. ADAT3 mutation is a recognized cause of intellectual disability (ID) in Saudi Arabia, particularly amongst consanguineous families. Adrenal insufficiency (AI) is a life-threatening condition with variable clinical signs and symptoms, such as fatigue, nausea, vomiting, hypotension, hypoglycemia, and electrolyte imbalances. One very uncommon presentation of acute AI is rhabdomyolysis, a syndrome characterized by markedly elevated creatinine kinase (CK) levels, myoglobinuria, and muscle pain. We describe a case of an eight-year-old boy with ADAT3 mutation and growth hormone (GH) deficiency presenting with AI and rhabdomyolysis.