Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia

Review Biochemistry & Molecular Biology

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

Mariangela Succoio et al.

Summary: Galactosemia is a genetic disorder that can be diagnosed at birth through newborn screening. There is currently no cure, and treatment involves managing the condition through dietary control.

BIOMOLECULES (2022)

Add to Collection

Article Genetics & Heredity

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

Atsuo Kikuchi et al.

Summary: The Leloir pathway metabolizes galactose and deficiencies in certain enzymes in this pathway are associated with genetic galactosemia. A new type of galactosemia, designated as type IV galactosemia, was recently discovered in patients with biallelic variants in the GALM gene upstream of GALK1. This relatively mild but not rare disease was identified through newborn screening in Japan.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Add to Collection

Article Genetics & Heredity

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J. Gerard Loeber et al.

Summary: Neonatal screening in Europe has been evolving since the 1960s, with significant progress made between 2010 and 2020 in terms of methodological advancements and expansion of screened conditions. Collaboration within Europe is increasing, which is crucial for timely detection and intervention for newborns with rare diseases.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Add to Collection

Article Biochemistry & Molecular Biology