Birth Defects - Metabolic Defects

Average
4.3
Rating : 12345
Rate This Article : 1 2 3 4 5
RSS Email Print This Page Comment
Font : A-A+

Metabolic Defects - Other Metabolic Disorder

Disorder Defective / deficient protein Clinical features Treatment
Amino acid metabolism - Maple syrup urine disease Branched chain keto-acid dehydrogenase Sugary smelling urine, breathing, feeding problems, mental retardation, death. Dietary restriction of branched chain amino acids
Carbohydrate metabolism- Galactosemia Galactose-1-phosphate uridyl transferase Inability to digest milk and milk products, vomiting, enlarged liver, jaundice, cataract, mental retardation and death if untreated. Exclusion of galactose from the diet
Nucleic acid metabolism- Adenosine deaminase deficiency Adenosine deaminase Toxicity to lymphocytes, causing severe combined immunodeficiency disease. Fatal if left untreated. Gene therapy

Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
Notify me when reply is posted
I agree to the terms and conditions

Health Topics A - Z

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Medindia Health Topics Search

Genetic Disorders

Medindia Newsletters

Subscribe to our Free Newsletters!

Terms & Conditions and Privacy Policy.

Advertisement

Doctor Search

Stay Connected

  • Available on the Android Market
  • Available on the App Store

Facebook