AlDhalaan Waheeb, Syed Faaezuddin, Javaid Haroon A, AlSagheir Afaf, Almustanyir Sami
Pediatric Endocrinology, King Fahad Medical City, Riyadh, SAU.
College of Medicine, Alfaisal University, Riyadh, SAU.
Cureus. 2021 Nov 23;13(11):e19833. doi: 10.7759/cureus.19833. eCollection 2021 Nov.
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.
腺苷脱氨酶tRNA特异性3（ADAT3）基因位于19号染色体上，编码一种负责将腺苷脱氨为次黄嘌呤核苷的酶。患有ADAT3突变的个体表现出小头畸形、畸形特征、神经、行为和内分泌病理。在沙特阿拉伯，ADAT3突变是公认的智力残疾（ID）病因，尤其是在近亲家庭中更为常见。肾上腺功能不全（AI）是一种危及生命的疾病，具有多种临床体征和症状，如疲劳、恶心、呕吐、低血压、低血糖和电解质失衡等症状。急性AI一种非常罕见的表现是横纹肌溶解，这是一种以肌酸激酶（CK）水平显著升高、肌红蛋白尿和肌肉疼痛为特征的综合征。我们描述了一例患有ADAT3突变和生长激素（GH）缺乏的8岁男孩，他同时出现了AI和横纹肌溶解症状。
