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Inborn Errors of Metabolism

Inborn Errors of Metabolism

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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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Published on: June 25, 2010

Expanded newborn screening identifies maternal primary carnitine deficiency.

Lisa A Schimmenti¹, Eric A Crombez, Bernd C Schwahn

¹University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.

Molecular Genetics and Metabolism

|November 28, 2006

Summary

Newborn screening identified primary carnitine deficiency in infants. This early detection of carnitine deficiency in adults prevents serious health issues like hypoglycemia and cardiomyopathy.

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Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Primary carnitine deficiency disrupts fatty acid oxidation, leading to severe health consequences.
Affected individuals face risks of hypoglycemia, hepatic encephalopathy, cardiomyopathy, and sudden death.

Purpose of the Study:

To report the diagnosis of primary carnitine deficiency in six adult women.
To highlight the effectiveness of newborn screening in identifying affected infants.

Main Methods:

Newborn screening using tandem mass spectrometry to detect low free carnitine levels (C0).
Diagnosis of primary carnitine deficiency in adult patients based on screening results from their infants.

Main Results:

Six unrelated women were diagnosed with primary carnitine deficiency.
Their unaffected infants were identified with low free carnitine levels through newborn screening.

Conclusions:

Expanded newborn screening programs are crucial for identifying adult patients with primary carnitine deficiency.
Early diagnosis enables management and prevention of life-threatening complications associated with carnitine deficiency.