Histidinemia

Reviewed August 2009

What is histidinemia?

Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated histidine levels are unaware that they have this condition.

The combination of histidinemia and a medical complication during or soon after birth (such as a temporary lack of oxygen) might increase a person's chances of developing intellectual disability, behavioral problems, or learning disorders.

How common is histidinemia?

Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people.

What genes are related to histidinemia?

Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin.

HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. These increased levels of histidine do not appear to have any negative effects on the body.

Related Gene(s)

Changes in this gene are associated with histidinemia.

How do people inherit histidinemia?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of histidinemia?

These resources address the diagnosis or management of histidinemia and may include treatment providers.

Genetic Testing Registry: Histidinemia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0220992)

You might also find information on the diagnosis or management of histidinemia in Educational resources (http://www.ghr.nlm.nih.gov/condition/histidinemia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/histidinemia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about histidinemia?

You may find the following resources about histidinemia helpful. These materials are written for the general public.

MedlinePlus - Health information
- Health Topic: Metabolic Disorders (http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html)
- Health Topic: Newborn Screening (http://www.nlm.nih.gov/medlineplus/newbornscreening.html)
Educational resources - Information pages
Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2157)
Patient support - For patients and families
- CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)
- National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/623/viewAbstract)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Histidinemia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0220992)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(histidinemia%5BTI%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/235800)

What other names do people use for histidinemia?

HAL deficiency
HIS deficiency
histidase deficiency
histidine ammonia-lyase deficiency
hyperhistidinemia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about histidinemia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding histidinemia?

amino acid ; ammonia ; autosomal ; autosomal recessive ; cell ; complication ; deficiency ; enzyme ; expressed ; gene ; incidence ; molecule ; newborn screening ; oxygen ; recessive ; screening

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. Hum Genet. 2005 Apr;116(5):340-6. Epub 2005 Jan 27. Erratum in: Hum Genet. 2005 Dec;118(3-4):531-2. (http://www.ncbi.nlm.nih.gov/pubmed/15806399?dopt=Abstract)
Orphanet Encyclopedia: Histindinemia (http://www.orpha.net/data/patho/GB/uk-HIS.pdf)
Taylor RG, Levy HL, McInnes RR. Histidase and histidinemia. Clinical and molecular considerations. Mol Biol Med. 1991 Feb;8(1):101-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/1943682?dopt=Abstract)
Virmani K, Widhalm K. Histidinemia: a biochemical variant or a disease? J Am Coll Nutr. 1993 Apr;12(2):115-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/8463510?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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