Concepedia

Concept

inherited metabolic disease

Parents

Children

16.8K

Publications

836.9K

Citations

70K

Authors

7.6K

Institutions

Neonatal Metabolic Screening

1952 - 1967

The era is characterized by the emergence of population-level newborn screening for metabolic disorders and a growing biochemistry-driven description of inherited conditions. Researchers integrated rapid biochemical assays with epidemiological methods, enabling widespread detection of disorders such as phenylketonuria and related metabolic abnormalities, and laying the groundwork for standardized screening programs. Historical Significance: This period established a durable paradigm that linked early diagnostic capability with genetic and metabolic understanding, catalyzing long‑term management, cross-disease methodological standardization, and the expansion of metabolic genetics as a foundational field.

No papers available

Heritable Enzyme Defects

1968 - 1974

Genetic-Metabolic Synthesis

1975 - 1981

Late-1980s Integrated Diagnostics

1982 - 1988

Pathway-Genotype Paradigm (1990s)

1989 - 1995

Monogenic Metabolic Regulation

1996 - 2002

Genotype-Guided Metabolic Therapy

2003 - 2009

Genomics-Driven Metabolic Medicine

2010 - 2016

Omics-Driven Metabolic Diagnostics

2017 - 2023