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Inborn Errors of Metabolism

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

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Biochemical Measurement of Neonatal Hypoxia

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Published on: August 24, 2011

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.

Bernd Hoppe¹, Cristina Martin-Higueras¹, Lodovica Borghese¹

¹German Hyperoxaluria Center, Bonn, Germany.

Kidney International Reports

|January 15, 2025

Summary

Genomic newborn screening effectively identified carriers of primary hyperoxaluria (PH1-3) in a pilot study. Early detection through this approach is crucial for preventing severe health outcomes like kidney failure.

Keywords:

AGXT HOGA1 genetic newborn screening pilot study primary hyperoxaluria treatable genetic disease

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Published on: July 14, 2017

Area of Science:

Genetics
Metabolic Disorders
Neonatal Screening

Background:

Newborn screening (NBS) programs are successful but limited in scope.
Genomic NBS offers expanded detection of treatable genetic disorders.
Primary hyperoxalurias (PH1-3) are rare, severe autosomal recessive diseases requiring early diagnosis.

Purpose of the Study:

To evaluate the feasibility of genomic NBS for primary hyperoxalurias (PH1-3).
To screen newborns for prevalent PH genetic variants.
To identify carriers and affected infants for timely intervention.

Main Methods:

Prospective pilot study integrated into the German NBS program.
Multiplex PCR screening of DNA from dried blood spots for key PH1 and PH3 variants.
Follow-up urine analysis and Sanger sequencing for identified carriers.

Main Results:

Screened 77,199 newborns for PH1 and PH3 variants.
Identified 274 potential carriers for AGXT (PH1) and 287 for HOGA1 (PH3).
Detected two symptomatic compound heterozygous infants (one PH1, one PH3) and one additional symptomatic PH1 patient through family history.

Conclusions:

Genomic NBS is effective for detecting primary hyperoxalurias, even in smaller populations.
This approach enables early identification of at-risk infants.
Genomic screening holds promise for expanding NBS capabilities for rare genetic diseases.