Related Experiment Video

Updated: Jul 25, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

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

Published on: June 25, 2010

Phenylketonuria in South Africa. A report on the status quo

H W Hitzeroth1, C E Niehaus, D C Brill

  • 1Genetic Services, Department of National Health and Population Development, Pretoria.

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
|January 1, 1995
PubMed

Insights

Newborn screening for phenylketonuria (PKU) in South Africa found a very low incidence. The pilot program concluded that PKU screening is not cost-effective due to low prevalence and competing health priorities.

Area of Science:

  • Medical Genetics
  • Public Health
  • Neonatal Care

Background:

  • A pilot newborn screening program for amino acidopathies, particularly phenylketonuria (PKU), was implemented in South Africa during the 1980s.
  • The program was motivated by the high priority of PKU screening in Europe and North America and the assumed high incidence in South Africans of European descent.

Purpose of the Study:

  • To evaluate the cost-effectiveness and justification of newborn screening for PKU and other amino acidopathies in South Africa.
  • To present the findings of a pilot screening program conducted between 1979 and 1986.

Main Methods:

  • Screening of 59,600 newborns in the Pretoria area over 8 years (1979-1986).
  • Statistical analysis using Poisson distribution and 95% confidence intervals to estimate the true incidence of PKU.

Main Results:

  • Only one case of PKU and one case of tyrosinaemia were detected among the 59,600 newborns screened.
  • The estimated true incidence of PKU was found to be no more than 1/20,000 newborns, statistically compatible with the observed low rate.

Conclusions:

  • Newborn screening for PKU and other amino acidopathies is not considered cost-effective or justifiable in South Africa.
  • The low incidence, demographic factors, and pressing health priorities do not support the continuation of such screening programs.

More Related Videos

Comprehensive & Cost Effective Laboratory Monitoring of HIV/AIDS: an African Role Model23:56

Comprehensive & Cost Effective Laboratory Monitoring of HIV/AIDS: an African Role Model

Published on: October 31, 2010

An Affordable HIV-1 Drug Resistance Monitoring Method for Resource Limited Settings19:57

An Affordable HIV-1 Drug Resistance Monitoring Method for Resource Limited Settings

Published on: March 30, 2014

Related Concept Videos

The Proteasome02:18

The Proteasome

Eukaryotic cells can degrade proteins through several pathways. One of the most important amongst these is the ubiquitin-proteasome pathway. It helps the cell eliminate the misfolded, damaged, or unwarranted cytoplasmic proteins in a highly specific manner.
In this pathway, the target proteins are first tagged with small proteins called ubiquitin. A series of enzymes carry out the ubiquitination of the target proteins - E1 (ubiquitin-activating enzyme), E2 (ubiquitin-conjugating enzyme), and E3...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Inborn Errors of Metabolism01:20

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...
Serum Studies: Renal Function Tests01:24

Serum Studies: Renal Function Tests

Renal function tests are crucial for assessing kidney health, monitoring disease progression, and evaluating the kidneys' efficiency in waste elimination, fluid balance, and electrolyte regulation. These tests offer critical insights into kidney function, even though routine measurements may appear normal until there is a significant decline in the glomerular filtration rate or GFR. Typically, signs of kidney impairment only become evident when the GFR falls to about 50% of its normal level.
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...