Abstract
Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.
Highlights
Inborn errors of metabolism (IEM) encompass a group of genetic diseases characterized by a partial deficit or altered structure which affect the function of a protein and cause the blockage of a metabolic pathway
Some IEMs can begin in adulthood, either with slowly progressive onset disorders, such as lysosomal diseases, or with episodes of acute decompensation, characteristic of acute porphyria attacks or urea cycle disorders [4]
IEMs which can lead to hyperlactacidemia are those that cause dysfunction in any of the four primary biochemical pathways linked to lactate metabolism: glycolysis, the tricarboxylic acid cycle (TCA), the mitochondrial electron transport chain and gluconeogenesis [23]
Summary
Inborn errors of metabolism (IEM) encompass a group of genetic diseases characterized by a partial deficit or altered structure which affect the function of a protein and cause the blockage of a metabolic pathway Interference in these enzyme pathways results in the deficiency of a particular end product or the excessive accumulation of an intermediate substrate, which can be toxic [1]. The diagnosis of an IEM can be challenging due to their nonspecific clinical presentation and the lack of experience of physicians with this type of disorder [5] These diseases have a wide clinical spectrum, the nervous and gastrointestinal systems are those most frequently observed in IEMs. Neurological involvement can manifest both as progressive degenerative symptoms (developmental delay, movement disorders, hypotonia, etc.) and acute episodes of encephalopathy (coma, seizures, psychiatric symptoms, etc.) [6,7]. This subgroup rarely leads to acute decompensations requiring urgent management, with the exception of strokes in Diagnostics 2021, 11, x FORpPaEEtiReRnEtVsIEwWith Fabry disease [15], or acute adrenal insufficiency in the case o5foXf 1-2linked adrenoleukodystrophy [16] (Figure 3)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
