Prostate Cancer Screening
Newborn Screening
The Thromboelastogram
Community-acquired MRSA
Diagnostic Utility of Skin Biopsy
Diagnosis of Sepsis
Osteoporosis in Men
Oral Anticoagulant Therapy
Patient with Allergy
Cytology
Role of Vancomycin
Estimated average glucose
Fungitell Option 2
Evolving role of Troponins
Aspirin Resistance
Tumor Markers
Sentinel Lymph Node Biopsy
Swine Influenza
Syphillis
Hereditary Haemochromatosis
Haematological Changes in HIV
Influence of HIV
Drug induced liver injury
 

Newborn Screening

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Dr. Marietjie Meyer - MBChB; MMed (Chem Path) (UFS)

NEWBORN SCREENING FOR INBORN ERRORS OF METABOLISM

The term “Inborn Errors of Metabolism” (IEM) was first described in 1908 by Sir Archibald Garrod to describe a group of disorders (alkaptonuria, benign pentosuria, albinism, and cystinuria ) which “…apparently result from failure of some step or other in the series of chemical changes which constitute metabolism”. In 1934 Phenylketonuria (PKU), which is associated with a particularly severe form of mental retardation, was discovered by Følling. PKU was the first successfully treated IEM when the phenylalanine-restricted diet was introduced by Bickel in 1953. This disorder was instrumental for the launch of neonatal population screening programs by using dried blood spots introduced by Guthrie in 1963.

Numerous disorders of metabolism have since been described, and new sensitive tandem mass spectrometry technology has made population based screening programs possible.

Inborn Errors of Metabolism individually are rare, but cumulatively they affect approximately 1:500 newborns, and therefore represent a special challenge in general and pediatric practice.

There is considerable evidence that many inborn errors remain undiagnosed.

The large number of metabolic diseases (more than 500 described to date), and taking into account the phenotypical variations, make it extremely difficult for the clinician to know when to consider the Further delay often occurs because the type of investigation required to make the diagnosis of an IEM includes unfamiliar tests, which the clinician may feel uncomfortable interpreting owing to a general lack of confidence regarding metabolic problems.

Among the disorders that may be diagnosed, some cause severe illness or death. Most of these disorders are treatable if diagnosed early. With early diagnosis and treatment, problems can be avoided including biochemical disturbances such as hyperammonaemia in urea-cycle defects; severe metabolic acidosis in organic acidaemias or hypoketotic hypoglycaemia; cardiomyopathy; or rhabdomyolysis in fatty oxidation disorders. If left untreated, these disorders may lead to brain damage, other organ damage or death.

 

Read the full article here.