Q: Which doctor should I consult for inborn errors of metabolism?
A: If you are concerned about yourself or a family member having an inborn error of metabolism, you must visit your general physician or a pediatrician or a genetic specialist to get the necessary tests done.
Q: What is an inborn condition?
A: Inborn conditions are conditions that are present from birth. They are also referred to as congenital or hereditary conditions.
Q: What is Alkaptonuria?
A: Alkaptonuria is an inherited metabolic condition which results in the build-up of homogentisic acid in the body. Alkaptonuria is also known as black urine disease because the build-up of homogentisic acid causes the urine to turn black when exposed to air for a few hours.
Q: How is alkaptonuria caused and how does it affect the body?
A: Alkaptonuria is caused due to a mutation in the homogentisate 1,2-dioxygenase (HGD) gene. Mutations in both copies of this gene result in inadequate amounts of the enzyme homogentisate 1,2-dioxygenase, which is essential for the proper breakdown of homogentisic acid. In the absence of this enzyme, homogentisic acid accumulates in the connective tissue and skin, causing arthritis and blue-black pigmentation of the skin. Arthritis begins in early adulthood whereas skin pigmentation appears only after 30 years of age. Individuals with alkaptonuria also have heart problems, kidney stones and prostate stones.
Q: What is maple syrup urine disease?
A: Maple syrup urine disease (MSUD) is caused due to the deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase complex (BCKD), which is essential for the breakdown of certain amino acids. Build-up of these amino acids in the body causes nerve damage and the urine smells like maple syrup.
