Hawkinsinuria

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Hawkinsinuria is caused by a mutation in the HPD gene that codes for the HPD enzyme which is used to break down tyrosine. Which means that the protein that breaks down tyrosine is made incorrectly which means that it is not a functioning protein. Resulting in the accumulation of Hawkinsinuria and tyrosine.  

Hawkinsinuria is an extremely rare inherited metabolic disorder, it is estimated that the prevalence of Hawkinsinuria is less than 1:1,000,000.

The signs and symptoms of Hawkinsinuria manifest at around 18 weeks of age and becomes more apparent during the time that a baby is being weaned of breast milk and begin being fed milk formula. 

The signs and symptoms of Hawkinsinuria are:  

• Failure to gain weight and grow (failure to thrive)  
• Abnormally high acid levels in the blood 
• Vomiting  
• Diarrhoea  
• Fine or sparse hair 
• Abnormal concentration of tyrosine within the blood 
• Pretibial oedema  
• Chlorine like smell in urine  

Hawkinsinuria is diagnosed using a urine sample, the premise of the urine sample is to detect tyrosine metabolites by organic acid analysis in the urine. 

Infants with Hawkinsinuria usually are treated using a phenylalanine and tyrosine restricted diet. However, as the child gets older their bodies begin to develop a tolerance towards these amino acids which means that they will be able to have a normal healthy diet and do not need to be on any special diet and medication.  

Hawkinsinuria is an autosomal dominant inherited metabolic disorder. Humans are made up of DNA and DNA is made up of chromosomes. Genes are sections of DNA that provide instructions to the body in order for specific proteins to be made. We inherit particular chromosomes from the egg from the mother and sperm from the father. Every human has two genes that are needed in order to make the protein that breaks down tyrosine. In an autosomal dominant disorder, a child only needs to inherit one of the non-working HPD gene in order for the child to inherit it.  

When one parent has Hawkinsinuria, the chance of the baby getting hawkinsinuria in each pregnancy is as follows: 

• 50% unaffected if they receive two working genes 
• 50% affected if they receive at least one fault gene.  

References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.

Please note calls to 0800 numbers are free from UK landlines and mobiles. Calls from business lines may be charged – please check with your provider.

This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.

Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.