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Related Concept Videos

Inborn Errors of Metabolism01:20

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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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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Published on: June 25, 2010

Newborn screening for homocystinuria.

John H Walter1, Nikki Jahnke, Tracey Remmington

  • 1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK, M27 4HA.

The Cochrane Database of Systematic Reviews
|August 12, 2011
PubMed
Summary
This summary is machine-generated.

Newborn screening for homocystinuria (a rare inherited disorder) lacks controlled studies. Uncontrolled data suggest early diagnosis and treatment benefit patients, but more research is needed.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Public Health

Background:

  • Homocystinuria is a rare inherited metabolic disorder caused by cystathionine beta-synthase deficiency.
  • Affected individuals appear normal at birth but develop severe complications in childhood.
  • Early diagnosis and intervention can prevent or mitigate these complications.

Purpose of the Study:

  • To evaluate the clinical benefits of newborn population screening for homocystinuria.
  • To compare outcomes between early diagnosis via screening and later clinical diagnosis.

Main Methods:

  • Searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.
  • Included randomized controlled trials and controlled clinical trials comparing screened versus non-screened populations for neonatal homocystinuria diagnosis.
  • Most recent search conducted on June 27, 2011.

Main Results:

  • No eligible studies were identified for inclusion in the review.
  • The review could not identify any randomized controlled trials or controlled clinical trials on this topic.

Conclusions:

  • Unable to draw conclusions from controlled studies due to lack of eligible research.
  • Uncontrolled case series suggest newborn screening and early treatment for homocystinuria are effective.
  • Future multicenter, long-term randomized controlled trials are needed to establish robust evidence and cost-effectiveness.