Ozand P T, al Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H
Department of Paediatrics, King Faisal Specialist Hospital Research Centre, Riyadh, Saudi Arabia.
J Inherit Metab Dis. 1991;14(2):174-88. doi: 10.1007/BF01800590.
Deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase has been studied in 11 Saudi infants. The diagnosis was established by the measurement of enzyme activity in lymphocytes, in fibroblasts and, in seven patients, by the gas chromatography/mass spectrometer pattern of excreted organic acids in the urine. In seven infants the disease caused a devastating acidotic attack within the first day of life, while in two the crisis occurred by the third day of life. In two infants from one family the disease appeared later in infancy. The clinical presentation of an acidotic attack is lethargy, hyperpnoea, tachypnoea and seizures, either at birth (two infants), following first feeding (in five infants), or following vomiting or refusal of food in later infancy. The acidotic attacks recurred later in life following minor illness or refusal to eat. The acidosis of this enzyme deficiency progresses rapidly, leading to cardiopulmonary arrest and death within hours of onset unless treated promptly. In four surviving infants diagnosed and treated early, development is normal. Magnetic resonance and computerized tomography brain scans in these infants, however, show white matter lesions and mild atrophy.
对11名沙特婴儿进行了3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的研究。通过检测淋巴细胞、成纤维细胞中的酶活性，并对7名患者通过尿液中排泄的有机酸的气相色谱/质谱图谱来确诊。7名婴儿在出生后第一天就因该病引发了严重的酸中毒发作，2名婴儿在出生后第三天出现危机。在一个家庭的2名婴儿中，该病在婴儿期较晚出现。酸中毒发作的临床表现为嗜睡、呼吸急促、呼吸过速和惊厥，要么在出生时（2名婴儿），要么在首次喂食后（5名婴儿），要么在婴儿期后期呕吐或拒食后出现。酸中毒发作在日后因小病或拒食而再次出现。这种酶缺乏症引起的酸中毒进展迅速，除非及时治疗，否则在发病数小时内就会导致心肺骤停和死亡。在4名早期诊断并接受治疗的存活婴儿中，发育正常。然而，这些婴儿的磁共振成像和计算机断层扫描脑部扫描显示有白质病变和轻度萎缩。
