Hawkinsinuria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Hawkinsinuria
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Metabolic acidosis, failure to thrive, tyrosinemia
Complications	N/A
Onset	Infancy
Duration
Types
Causes	Genetic mutation in the HPD gene
Risks
Diagnosis	Urine organic acid analysis, genetic testing
Differential diagnosis
Prevention
Treatment	Dietary management, ascorbic acid supplementation
Medication
Prognosis	Generally good with treatment
Frequency	Very rare
Deaths

Hawkinsinuria is a rare genetic disorder characterized by the presence of the chemical hawkinsin in the urine. This condition is typically diagnosed in infancy and can cause metabolic acidosis, failure to thrive, and delays in physical and intellectual development. However, the severity of these symptoms can vary widely among affected individuals.

Symptoms

The symptoms of hawkinsinuria can vary widely among affected individuals. Some common symptoms include:

• Metabolic acidosis
• Failure to thrive
• Delays in physical and intellectual development
• Skin rashes
• Diarrhea

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 the amino acid tyrosine. Mutations in the HPD gene disrupt the normal function of this enzyme, leading to the buildup of a toxic substance called hawkinsin in the body.

Diagnosis

Diagnosis of hawkinsinuria is typically made through a urine test, which can detect the presence of hawkinsin. Genetic testing can also be used to confirm the diagnosis.

Treatment

Treatment for hawkinsinuria typically involves a diet low in tyrosine and phenylalanine, another amino acid that can build up in the body as a result of the disorder. In some cases, medication may also be used to help manage symptoms.

See also

• Tyrosinemia
• Metabolic disorder
• Genetic disorder

References

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