Type III tyrosinemia

Jump to: navigation, search

WikiDoc Resources for Type III tyrosinemia

Articles

Most recent articles on Type III tyrosinemia

Most cited articles on Type III tyrosinemia

Review articles on Type III tyrosinemia

Articles on Type III tyrosinemia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Type III tyrosinemia

Images of Type III tyrosinemia

Photos of Type III tyrosinemia

Podcasts & MP3s on Type III tyrosinemia

Videos on Type III tyrosinemia

Evidence Based Medicine

Cochrane Collaboration on Type III tyrosinemia

Bandolier on Type III tyrosinemia

TRIP on Type III tyrosinemia

Clinical Trials

Ongoing Trials on Type III tyrosinemia at Clinical Trials.gov

Trial results on Type III tyrosinemia

Clinical Trials on Type III tyrosinemia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Type III tyrosinemia

NICE Guidance on Type III tyrosinemia

NHS PRODIGY Guidance

FDA on Type III tyrosinemia

CDC on Type III tyrosinemia

Books

Books on Type III tyrosinemia

News

Type III tyrosinemia in the news

Be alerted to news on Type III tyrosinemia

News trends on Type III tyrosinemia

Commentary

Blogs on Type III tyrosinemia

Definitions

Definitions of Type III tyrosinemia

Patient Resources / Community

Patient resources on Type III tyrosinemia

Discussion groups on Type III tyrosinemia

Patient Handouts on Type III tyrosinemia

Directions to Hospitals Treating Type III tyrosinemia

Risk calculators and risk factors for Type III tyrosinemia

Healthcare Provider Resources

Symptoms of Type III tyrosinemia

Causes & Risk Factors for Type III tyrosinemia

Diagnostic studies for Type III tyrosinemia

Treatment of Type III tyrosinemia

Continuing Medical Education (CME)

CME Programs on Type III tyrosinemia

International

Type III tyrosinemia en Espanol

Type III tyrosinemia en Francais

Business

Type III tyrosinemia in the Marketplace

Patents on Type III tyrosinemia

Experimental / Informatics

List of terms related to Type III tyrosinemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Type III tyrosinemia
L-tyrosine-skeletal.png
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.

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Type III tyrosinemia 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



Linked-in.jpg