Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA.
Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.
Pediatr Rev. 2022 Jul 1;43(7):371-383. doi: 10.1542/pir.2022-005088.
Inborn errors of metabolism (IEMs) are a large group of disorders that can present in any age group and must be considered in the differential diagnosis for a variety of signs and symptoms appearing in infants and children. The rarity and complexity of these conditions often make them difficult to recognize, as they may mimic more common conditions. This review article discusses some of the more commonly presenting IEMs that are important for the general pediatrician to understand when evaluating a sick patient. Many of these diseases are also on the newborn screen, which pediatricians often encounter as first-line providers. Disorders that are discussed in detail herein include disorders of amino acid metabolism, including amino acidopathies and organic acidurias; urea cycle disorders; defects in fatty acid β-oxidation; disorders of carbohydrate metabolism, including the glycogen storage diseases and galactosemia; and lysosomal storage diseases.
先天性代谢缺陷（IEMs）是一大类疾病，可发生于任何年龄组，在鉴别诊断婴儿和儿童出现的各种症状时必须考虑到这些疾病。这些病症的罕见性和复杂性常常使其难以识别，因为它们可能模仿更为常见的病症。本文综述了一些更常见的表现型 IEMs，这对于儿科医生在评估患病患者时理解这些疾病很重要。许多此类疾病也在新生儿筛查范围内，而儿科医生通常作为一线提供者遇到这些疾病。本文详细讨论了氨基酸代谢紊乱，包括氨基酸病和有机酸血症；尿素循环障碍；脂肪酸β-氧化缺陷；碳水化合物代谢紊乱，包括糖原贮积病和半乳糖血症；以及溶酶体贮积病。
