Cabral A, Portela R, Tasso T, Eusébio F, De Almeida I T, Silveira C
Unidade de Doenças Metabólicas, Hospital de Santa Maria, Lisboa.
Acta Med Port. 1998 Jul;11(7):659-65.
The authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and in 4 the onset occurred later. Fifteen patients (78.9%) needed one or several extra-corporal procedures either in the initial acute phase or during relapse. Fifteen patients presented several metabolic relapses, sometimes fatal (3 children). Global mortality was 26.3%, that is 5/19 patients: 4 children with neonatal forms, one with a later onset. Eleven patients (57.9%) had an IQ/DQ > or = 80: only 46.6% of the neonatal forms obtained these results, in contrast with all the late onset forms. Of the survivors, 9 (64.2%), presented a residual neurologic condition. The correct diagnostic and treatment procedures are defined and the need to consider the existence of these diseases at any age, particularly in the neonatal period, is stressed.
作者报告了19例支链氨基酸分解代谢疾病：9例枫糖尿症、6例甲基丙二酸血症、2例丙酸血症、1例3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症和另1例2-甲基-酮乙酰辅酶A硫解酶缺乏症。15例为早发型新生儿病例，4例发病较晚。15例患者（78.9%）在初始急性期或复发期间需要进行一次或多次体外治疗。15例患者出现多次代谢复发，有时是致命的（3名儿童）。总体死亡率为26.3%，即19例患者中有5例死亡：4例早发型新生儿病例，1例发病较晚。11例患者（57.9%）的智商/发育商≥80：只有46.6%的早发型新生儿病例达到这一结果，而所有晚发型病例均达到这一结果。在幸存者中，9例（64.2%）存在残留神经功能障碍。明确了正确的诊断和治疗方法，并强调在任何年龄，特别是新生儿期，都需要考虑这些疾病的存在。
