Facts:

Inborn errors of metabolism are hereditary diseases resulting from

 incompetence in enzymatic reactions of intermediary metabolism.

More than 500 Inborn errors of metabolism are known today.

Each of these diseases alone is quite rare, but as a group,

they affect about 1-2% of newborns and therefore pose a significant

health problem.

Inborn errors of metabolism causing clinical manifestations in the

neonatal period are usually severe, non-specific, and are often lethal

if proper therapy is not quickly initiated.

 

Inborn errors of metabolism should be considered in severely ill neonate with:

1-     Lethargy, poor feeding, convulsions, vomiting, coma.

2-     Clinical deterioration in a previously healthy neonate.

3-     Death in neonatal period especially if there is positive sib death

      or consanguineous marriage.

Inborn errors of metabolism should be suspected in children with:

1-     Unexplained mental retardation, developmental delay or convulsions.

2-     Intermittent episodes of unexplained vomiting, acidosis, mental deterioration

       or coma.

3-     Hepatomegaly.

 

Acts: 

Extended metabolic screen is a simple quick test that utilizes few drops

 of blood to screen for more than 30 Inborn errors of metabolism including:

1-     Acylcarnitine/ carnitine profile for detection of:

-     Fatty acids oxidation disorders.

-      Organic acids disorders (Methylmalonic acidemia, propionic

     acidemia, multiple carboxylase deficiency, isovaleric acidemia).

2-     Amino Acid profile for detection of:

-       Phenyleketonuria, tyrosinemia, MSUD, homocystinuria and hypermethionemia.

-       Urea cycle disorders.

3-     Galactose- (Gal and Gal-1-p) for detection of galactosaemia.

4-     Biotinidase enzyme for detection of biotinidase deficiency. 

SO Extended Metabolic Screening is strongly indicated for diagnosis               of Inborn errors of metabolism as early treatment may prevent                    or at least decrease the serious effects associated                                      with these disorders.

  

Some Metabolic Disorders Detected by

     Extended Metabolic Screen

Amino Acid Disorders:

Phenyleketonuria

Tyrosinemia

Maple Syrup Urine Disease (MSUD)

Classical homocystinuria.

Hypermethioninemia

Urea Cycle disorders:

Citrullinemia

Arginosuccinic Aciduria

Arginase Deficiency

Methylmalonic Acidemias

Propionic Acidemia

Isovaleric Acidemia

Multiple Carboxylase Deficiency

Glutaric Acidemia- Type 1

Mitochondrial Acetoacetyle-CoA Thiolase Deficiency

Biotinidase Deficiency

 

Fatty Acid Oxidation Disorders

 

 Galactosemia