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.
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
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 KUFOR-RAKEB SYNDROME; KRS CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V