Argininosuccinic aciduria: From a monogenic to a complex disorder

Research output: Contribution to journalReview articlepeer-review

Abstract

In the early 1930s, phenylketonuria was among the first metabolic diseases to be defined. In the following years, multiple attempts to correlate genotype and phenotype in several inherited metabolic diseases, including phenylketonuria, were encountered with difficulties. It is becoming evident that the phenotype of metabolic disorders is often more multifaceted than expected from the disruption of a specific enzyme function caused by a single-gene disorder. Undoubtedly, revealing the factors contributing to the discrepancy between the loss of a single enzymatic function and the wide spectrum of clinical consequences would allow clinicians to optimize treatment for their patients. This article discusses several possible contributors to the unique, complex phenotypes observed in inherited metabolic disorders, using argininosuccinic aciduria as a disease model.

Original languageEnglish
Pages (from-to)251-257
Number of pages7
JournalGenetics in Medicine
Volume15
Issue number4
DOIs
StatePublished - Apr 2013

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Argininosuccinic aciduria: From a monogenic to a complex disorder'. Together they form a unique fingerprint.

Cite this