Hawkinsinuria
Definicija
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.
Pretraga
Pun naziv
Hawkinsinuria
Kratki naziv
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Sinonimi
4-HPPD deficiency_x000D_4-alpha-hydroxyphenylpyruvate hydroxylase deficiency_x000D_4-hydroxyphenylpyruvic acid dioxygenase deficiency
Orpha broj
2118
Kategorija
Podkategorija
Naziv na stranom jeziku
-
Prevalenca
NULL
Nasleđivanje
Autosomal dominant
Period početka bolesti
-
ICD 10
E70.2
OMIM
140350
UMLS
C2931042
GARD
5668
MEDDRA
NULL
Tekstualni opis
Symptoms manifest in infants fed on formula or cow's milk or after weaning from breast milk.
Etiologija
The disorder is transmitted as an autosomal dominant trait and is caused by an A33T mutation in 4-hydroxyphenylpyruvic acid dioxygenase (4-HPPD), an enzyme that catalyses the conversion of hydroxyphenylpyruvate to homogentisate.
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
Patients are treated with ascorbic acid and a low-protein diet (in particular, restricted phenylalanine and tyrosine intake). On this diet, the patients grow normally and the metabolic acidosis resolves.
Dijagnostičke metode
The diagnosis is confirmed by detection of characteristic tyrosine metabolites by organic acid analysis of the urine.
Antenatalna dijagnoza
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Epidemiologija
The prevalence is unknown, but the disease appears to be very rare with only a small number of affected families reported in the literature.
Genetsko savetovanje
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Terapija
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Klinička istraživanja
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