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Home
Research Domains
Biomedical And Clinical Sciences
Oncology And Carcinogenesis
Predictive And Prognostic Markers
Natural History Of Three Late-diagnosed Classic Galactosemia Patients.

Home
Research Domains
Biomedical And Clinical Sciences
Oncology And Carcinogenesis
Predictive And Prognostic Markers
Natural History Of Three Late-diagnosed Classic Galactosemia Patients.

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Published on: November 13, 2016

Natural history of three late-diagnosed classic Galactosemia patients.

Dulce Quelhas^1,2,3, Sandra D K Kingma^4,5, An I Jonckheere⁵

¹Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.

Molecular Genetics and Metabolism Reports

|March 12, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

Late diagnosis of Classic Galactosemia (CG) occurred in three patients due to lack of newborn screening and typical symptoms. This highlights the critical need for neonatal screening and further testing for late-onset conditions.

Keywords:

Classic galactosemia Late diagnosis Natural history

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Area of Science:

Medical Genetics
Pediatric Endocrinology
Metabolic Disorders

Background:

Classic Galactosemia (CG) is a rare inherited metabolic disorder.
Newborn screening is crucial for early detection and management of CG.
Delayed diagnosis can lead to severe health complications.

Purpose of the Study:

To describe the natural history of three patients with late-diagnosed Classic Galactosemia.
To emphasize the importance of neonatal screening for CG.
To highlight the necessity of diagnostic testing for late-onset manifestations.

Main Methods:

Case report of three patients with late-diagnosed Classic Galactosemia.
Review of patient histories, diagnostic processes, and clinical outcomes.

Analysis of factors contributing to delayed diagnosis.

Main Results:

Three patients diagnosed with Classic Galactosemia at ages 16, 19, and 28 years.
Delayed diagnosis attributed to absence of neonatal screening, atypical neonatal symptoms, and false-negative screening results.
Patients experienced significant health issues due to the late diagnosis.

Conclusions:

Neonatal screening is essential for timely diagnosis and intervention in Classic Galactosemia.
Further diagnostic evaluation is crucial for individuals presenting with late-onset symptoms suggestive of metabolic disorders.
Early detection through screening significantly improves patient outcomes and prevents long-term complications.