Inborn Error Of Metabolism and What You Should Know.

                 Inborn error of metabolism are genetic disorder which are rare but does in real life occur, it is a disorder in which the body cannot convert the intake foods into useful energy the body needed to remain active and healthy. The pictures above shows two babies of which the one at the left shows inborn error abnormalities while that at the right is a healthy and normal baby.

Inborn error disorders are usually caused by defect in specific protein/enzymes that help in the break down if ingested and digested foods. In the absence of these enzymes, food products are not properly broken down into energy and will build up in the body to cause series of abnormalities such development delay due to poor feeding and lethargy, and may lead to sepsis. Others include persistence vomiting, metabolic acidosis, hypoglycemia, jaundice as seen above, hepatomegaly, abnormal body structures as thus above, etc

 Metabolic inborn error are classified according to the exact missing enzymes in the body, it could be any of the following :
   
     1.Tyrosine -tyrosinaemia, alkaptonuria  and albinism.

      2. Methionine -homocystinuria and hypermethionaemia.
 
       3. Cystine  -cystinuria, cystinosis   and  sulfite oxidase deficiency.   
 
       4. Tryptophen - hartnup's disorder.

       5. Glysine - nonketotic  hypoglycemia.
 
      6. Lysine - glutaric aciduria type 1.
 
     7. Aspartic acid - Caravan's disease.
 
     8. Leucine, Isoleucine and valine  -maple syrup disease.
 (MSU).


  The aboves are amino  acids (right)  and the  corresponding disorders (left) their absence will produce in the body. I will elaborate on the last -Leucine, Isoleucine and Valine which its absence results in MAPLE SYRUP disease.
 

Maple  Syrup  Urine Disease results from autosomal  recessive  deficiency of the branched chain keto acid dehydrogenase, the enzyme responsible for decarboxalation of alpha keto acids resulting from the decarboxylation of the branched -chain amino acids --Leucine, Isoleucine and Valine (LIV) . In the absence of the enzymes that help to break down these listed amino acids , the affected children faced with elevated plasma  and urine levels of  Leucine, Isoleucine and Valine as well as elevated levels of corresponding alpha keto acids and alpha hydroxyl acids. Clinically, the urine has an odour of burnt sugar, if untreated, brain damage and death may occur by the end of first year. MSU disease is fatal except  the patient is placed on Leucine, Isoleucine and Valine diets early in life. More pictures of inborn error babies are attached below.