Dashman T, Sansaricq C
Department of Pediatrics, New York University Medical Center, New York.
Clin Lab Med. 1993 Jun;13(2):407-32.
The determination of specific nutrients is important in the diagnosis of several inborn errors of metabolism. Phenylketonuria (PKU) is a well-known example. In this case, the nutrient, phenylalanine, is assayed to confirm a diagnosis and is routinely measured to monitor therapy, which consists of a diet low in this particular amino acid. Although many of the described inborn errors of metabolism are uncommon, or even rare, in occurrence, the laboratory plays an essential role in the diagnosis and management of these diseases.
特定营养素的测定对于几种先天性代谢缺陷的诊断很重要。苯丙酮尿症（PKU）就是一个众所周知的例子。在这种情况下，会检测营养素苯丙氨酸以确诊，并定期进行测量以监测治疗情况，治疗方法是食用这种特定氨基酸含量低的饮食。尽管所描述的许多先天性代谢缺陷在发生率上并不常见，甚至罕见，但实验室在这些疾病的诊断和管理中起着至关重要的作用。
