Inborn Error of Metabolism Testing is a diagnostic procedure designed to identify abnormal chemical levels in newborns. It assesses both initial substances and metabolites generated during the body’s biochemical processes, encompassing the creation and breakdown of these substances.
Causes of Inborn error metabolism (IEM)
IEM comprises a group of metabolic genetic disorders triggered by irregular chemical levels in newborns. These conditions stem from genetic abnormalities that hinder the body’s ability to produce essential proteins or enzymes involved in the synthesis and decomposition of various substances. Consequently, this leads to anomalies in the levels of precursor substances and metabolic byproducts, disrupting metabolic processes and potentially causing toxicity to various organs. These disorders can result in impaired cellular functions, referred to as “product deficiency.”
Presently, there are over 750 genetic metabolic diseases, with the majority manifesting in infants. However, many of these conditions remain asymptomatic at birth, making early diagnosis challenging. Even when symptoms eventually appear, they may be ambiguous, causing delays in treatment and the potential for organ damage, severe disability, or fatality. Swift and appropriate diagnosis and treatment can mitigate disability and enhance the prognosis. Nevertheless, due to the rarity of each disease within this category, many healthcare professionals may not be well-acquainted with them. As a result, treating these rare diseases can pose significant challenges.
● This test is recommended for all newborns. Screening for metabolic genetic diseases is
part of the national policy in several developed countries, including the United States,
England, Australia, Canada, Japan, and others.
Screening for IEM disease groups can detect up to 40 diseases, divided into
● Hormone : Thyroid stimulating hormone (TSH)
● 40 Metabolic Diseases :4 Urea cycle disorders; Citrullinemia type 1 (CIT1), Argininosuccinic aciduria, Argininemia and Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH) syndrome. 10 Disorders of amino acid metabolism; Phenylketonuria (PKU), Maple syrup urine disease (MSUD), Tyrosinemia type 1 (TYR1), Tyrosinemia type 2 (TYR2), Tyrosinemia type 3 (TYR3), Hyperphenylalaninemia, Biopterin cofactor deficiencies, Homocystinuria, Hypermethioninemia and Hyperornithinemia with gyrate atrophy. 14 Disorders of organic acid metabolism; Glutaric acidemia type 1 (GA1), Isovaleric acidemia (IVA), Methylmalonic acidemia (MMA), Propionic acidemia (PA), Multiple carboxylase deficiency (MCD), Adenosylcobalamin synthesis defects, Beta-Ketothiolase deficiency, 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency, Isobutyryl-CoA dehydrogenase deficiency, 2-Methylbutyryl-CoA dehydrogenase deficiency, Methylcrotonyl-CoA carboxylase deficiency, 3-Methylglutaconyl-CoA hydratase deficiency, Malonic aciduria andCombined methylmalonic acidemia and homocystinuria. 12 Disorders of fatty acid oxidation; Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, Short-chain acyl-CoA dehydrogenase (SCAD) deficiency, Short-chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency, Trifunctional protein deficiency, Multiple acyl-CoA dehydrogenase deficiency, Carnitine-acylcarnitine translocase (CACT) deficiency, Carnitine palmitoyltransferase type 1 (CPT1) deficiency, Neonatal carnitine palmitoyltransferase type 2 (CPT2) deficiency, Primary systemic carnitine deficiency (Carnitine uptake defect, CUD) and 2,4-Dienoyl-CoA reductase deficiency.
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