Hawkinsinuria
Hawkinsinuria (pronounced haw-kin-sin-yoo-ree-uh) is a rare genetic disorder that affects the metabolism of the amino acid tyrosine. It is named after the scientist, Dr. John Hawkins, who first described the condition.
Etymology
The term "Hawkinsinuria" is derived from the name of Dr. John Hawkins, the scientist who first described the condition, and the Greek word "ouron" which means urine. The term literally means "Hawkins' urine" indicating the presence of the unusual metabolite, hawkinsin, in the urine of affected individuals.
Symptoms
The symptoms of Hawkinsinuria can vary greatly among affected individuals. Some may exhibit signs of metabolic acidosis, a condition characterized by an excess of acid in the body fluids. Other symptoms may include failure to thrive, irritability, and diarrhea. In some cases, the symptoms may resolve on their own during infancy.
Causes
Hawkinsinuria is caused by mutations in the HPD gene. This gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which is involved in the breakdown of tyrosine. Mutations in the HPD gene disrupt the normal breakdown of tyrosine, leading to the accumulation of a toxic substance called hawkinsin in the body.
Diagnosis
Diagnosis of Hawkinsinuria is typically made through a combination of clinical examination and laboratory testing. The presence of hawkinsin in the urine can be detected through a specialized test known as gas chromatography-mass spectrometry (GC-MS).
Treatment
Treatment for Hawkinsinuria primarily involves a diet low in tyrosine and phenylalanine, another amino acid that can be converted into tyrosine. In some cases, individuals may require supplementation with a medical formula that is free of these amino acids.
See also
External links
- Medical encyclopedia article on Hawkinsinuria
- Wikipedia's article - Hawkinsinuria
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