Hawkinsinuria

Description

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.

Clinical Features

Top most frequent phenotypes and symptoms related to Hawkinsinuria

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Hepatomegaly
  • Vomiting
  • Hypothyroidism
  • Acidosis
  • Irritability
  • Sparse hair

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hawkinsinuria Is also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-hppd deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hawkinsinuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HPD Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HPD
Specificity
100 %
Genes
100 %
HPD Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HPD
Specificity
100 %
Genes
100 %
HPD Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HPD
Specificity
100 %
Genes
100 %
HPD.

By Institute for Human Genetics University Clinic Freiburg (Germany).

HPD
Specificity
100 %
Genes
100 %
HPD Gene Sequencing.

By GeneDx (United States).

HPD
Specificity
100 %
Genes
100 %
Tyrosinemia type III (sequence analysis of HPD gene).

By CGC Genetics (Portugal).

HPD
Specificity
100 %
Genes
100 %
Hawkinsinuria (sequence analysis of HPD gene).

By CGC Genetics (Portugal).

HPD
Specificity
100 %
Genes
100 %
Tyrosinemia Type III and Hawkinsinuria via HPD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HPD
Specificity
100 %
Genes
100 %

We have 28 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA EHLERS-DANLOS SYNDROME TYPE 7B COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS

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