Choudhry Shehla, Khan Masood, Rao Hani Akbar, Jalan Anil, Khan Ejaz Ahmed
Department of Paediatrics, Shifa International Hospital, Islamabad, Pakistan.
MEDICS Islamabad Hospital, Islamabad, Pakistan.
J Pak Med Assoc. 2013 Sep;63(9):1112-6.
To study the clinical presentation, diagnostic workup and outcome of children presenting with suspected inborn errors of metabolism.
The cross-sectional study was conducted at the Shifa International Hospital, Islamabad, and included all patients diagnosed with the condition between January 2006 and June 2011. Medical records of the patients were reviewed to collect the relevant data.
A total of 10 patients underwent diagnostic work-up. Majority 7 (70%) were males and 6 (60%) presented in the neonatal age group. Seizures and coma were the commonest presentations (n = 5; 50% each) followed by breathing difficulty (n = 4; 40%) and vomiting (n = 2; 20%). The commonest diagnoses were methyl malonic acidaemia (n=2; 20%), non-ketotic hyperglycinaemia (n=7; 10%), fructose 1,6 diphosphatase deficiency (n = 1; 10%), and biotinidase deficiency (n = 1; 10%). Mortality was high (n = 5; 50%) and half of the survivors had severe neurological impairment.
The diagnosis of inborn errors of metabolism requires a high index of suspicion. These disorders have a high mortality and risk of long-term neurological disability.
研究疑似先天性代谢缺陷患儿的临床表现、诊断检查及预后。
本横断面研究在伊斯兰堡的希法国际医院进行，纳入了2006年1月至2011年6月期间所有被诊断为此病的患者。回顾患者的病历以收集相关数据。
共有10例患者接受了诊断检查。大多数7例（70%）为男性，6例（60%）出现在新生儿年龄组。癫痫发作和昏迷是最常见的表现（各5例，占50%），其次是呼吸困难（4例，占40%）和呕吐（2例，占20%）。最常见的诊断是甲基丙二酸血症（2例，占20%）、非酮症高甘氨酸血症（7例，占10%）、果糖1,6二磷酸酶缺乏症（1例，占10%）和生物素酶缺乏症（1例，占10%）。死亡率很高（5例，占50%），一半的幸存者有严重的神经功能障碍。
先天性代谢缺陷的诊断需要高度怀疑。这些疾病死亡率高，且有长期神经残疾的风险。
