Type III tyrosinemia: Difference between revisions
m (Robot: Automated text replacement (-{{SIB}} +, -{{EH}} +, -{{EJ}} +, -{{Editor Help}} +, -{{Editor Join}} +)) |
mNo edit summary |
||
Line 1: | Line 1: | ||
__NOTOC__ | |||
{{SI}} | |||
{{CMG}}; {{AE}} | |||
{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = {{PAGENAME}} | | Name = {{PAGENAME}} | | ||
Line 15: | Line 19: | ||
MeshID = D020176 | | MeshID = D020176 | | ||
}} | }} | ||
==Overview== | |||
'''Type III tyrosinemia''' is a rare disorder caused by a deficiency of the enzyme [[4-hydroxyphenylpyruvate dioxygenase]] ({{EC number|1.13.11.27}}), encoded by the gene ''HPD''. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called [[4-hydroxyphenylpyruvate]] to [[homogentisic acid]]. Characteristic features of type III tyrosinemia include mild [[mental retardation]], [[seizure]]s, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported. | |||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==References== | |||
{{reflist|2}} | |||
{{Amino acid metabolic pathology}} | {{Amino acid metabolic pathology}} | ||
[[Category:Endocrinology]] | |||
[[Category: | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} |
Latest revision as of 20:22, 20 July 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Type III tyrosinemia | |
Tyrosine | |
ICD-10 | E70.2 |
ICD-9 | 270.2 |
OMIM | 276710 |
DiseasesDB | 29836 |
eMedicine | ped/2339 |
MeSH | D020176 |
Overview
Type III tyrosinemia is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported.