Hawkinsinuria

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Hawkinsinuria

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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.

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 %

You can get up to 28 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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