Inborn errors of metabolism in infancy: A guide to diagnosis
Inborn errors of metabolism in infancy: A guide to diagnosis
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DOI：
10.1542/peds.102.6.e69
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发表时间：
1998-12-01
期刊：
影响因子：
8
通讯作者：
Burton, BK
中科院分区：
文献类型：
--
作者：
Burton, BK
先天性代谢缺陷的诊断和治疗的最新进展大大改善了许多这些疾病的预后。这使得执业儿科医生必须熟悉这些疾病的临床表现。一个实用的临床方法来识别先天性代谢缺陷的婴幼儿在这方面的审查。具体的实验室研究的适应症进行了讨论。为危重婴儿的稳定和紧急治疗提供了指南。许多先天性代谢缺陷，包括尿素循环缺陷、有机酸代谢紊乱和某些氨基酸代谢紊乱，都存在于具有急性或慢性代谢性脑病症状的幼儿中。典型的症状包括嗜睡、进食不良、呼吸暂停或呼吸急促以及反复呕吐。代谢性酸中毒和/或高氨血症在许多这些条件下观察到，但也有显着的例外，包括非酮症高甘氨酸血症和钼辅因子缺乏症。因此，对于出现这些结果的婴儿，应进行适当的代谢紊乱实验室检查。尽管败血症可能是出现这些症状的新生儿的首要考虑因素，但先天性代谢缺陷应始终纳入鉴别诊断中，特别是对于没有特定危险因素的足月婴儿。低血糖可能是许多先天性代谢缺陷的主要发现，包括糖原储存障碍、糖异生缺陷和脂肪酸氧化缺陷。后一种疾病是最常见的，表现出明显的临床变异性，也可能表现为猝死、雷氏样发作或心肌病。肝功能障碍的黄疸或其他证据是另一组重要的先天性代谢缺陷的表现模式，包括半乳糖血症、遗传性酪氨酸血症、新生儿血色病和许多其他病症。溶酶体贮积症的一个亚群可能在非常早期表现为粗糙的面部特征、器官肿大甚至胎儿水肿。畸形特征和先天性异常的特定模式是另一组遗传性代谢紊乱的特征，如齐薇格综合征和史密斯-莱姆利-奥皮茨综合征。每一个这些症状的复杂性，并适当的评估受影响的婴儿，更详细地讨论了这一审查。
Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. Indications for specific laboratory studies are discussed. Guidelines are provided for the stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment.Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors.Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. The latter disorders, among the most common encountered, exhibit marked clinical variability and also may present as a sudden death, a Reye's-like episode, or a cardiomyopathy. Jaundice or other evidence of hepatic dysfunction is the mode of presentation of another important group of inborn errors of metabolism including galactosemia, hereditary tyrosinemia, neonatal hemochromatosis, and a number of other conditions. A subset of lysosomal storage disorders may present very early with coarse facial features, organomegaly, or even hydrops fetalis. Specific patterns of dysmorphic features and congenital anomalies characterize yet another group of inherited metabolic disorders, such as Zellweger syndrome and the Smith-Lemli-Opitz syndrome. Each of these symptom complexes, and the appropriate evaluation of the affected infants, is discussed in more detail in this review.