ALA dehydratase deficiency

Revision as of 00:22, 9 July 2009 by Swilliams (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search
ALA dehydratase deficiency
ICD-10 E80.2
ICD-9 277.1
OMIM 125270

WikiDoc Resources for ALA dehydratase deficiency

Articles

Most recent articles on ALA dehydratase deficiency

Most cited articles on ALA dehydratase deficiency

Review articles on ALA dehydratase deficiency

Articles on ALA dehydratase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on ALA dehydratase deficiency

Images of ALA dehydratase deficiency

Photos of ALA dehydratase deficiency

Podcasts & MP3s on ALA dehydratase deficiency

Videos on ALA dehydratase deficiency

Evidence Based Medicine

Cochrane Collaboration on ALA dehydratase deficiency

Bandolier on ALA dehydratase deficiency

TRIP on ALA dehydratase deficiency

Clinical Trials

Ongoing Trials on ALA dehydratase deficiency at Clinical Trials.gov

Trial results on ALA dehydratase deficiency

Clinical Trials on ALA dehydratase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on ALA dehydratase deficiency

NICE Guidance on ALA dehydratase deficiency

NHS PRODIGY Guidance

FDA on ALA dehydratase deficiency

CDC on ALA dehydratase deficiency

Books

Books on ALA dehydratase deficiency

News

ALA dehydratase deficiency in the news

Be alerted to news on ALA dehydratase deficiency

News trends on ALA dehydratase deficiency

Commentary

Blogs on ALA dehydratase deficiency

Definitions

Definitions of ALA dehydratase deficiency

Patient Resources / Community

Patient resources on ALA dehydratase deficiency

Discussion groups on ALA dehydratase deficiency

Patient Handouts on ALA dehydratase deficiency

Directions to Hospitals Treating ALA dehydratase deficiency

Risk calculators and risk factors for ALA dehydratase deficiency

Healthcare Provider Resources

Symptoms of ALA dehydratase deficiency

Causes & Risk Factors for ALA dehydratase deficiency

Diagnostic studies for ALA dehydratase deficiency

Treatment of ALA dehydratase deficiency

Continuing Medical Education (CME)

CME Programs on ALA dehydratase deficiency

International

ALA dehydratase deficiency en Espanol

ALA dehydratase deficiency en Francais

Business

ALA dehydratase deficiency in the Marketplace

Patents on ALA dehydratase deficiency

Experimental / Informatics

List of terms related to ALA dehydratase deficiency

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

ALA dehydratase deficiency (also called ALAD porphyria) is a rare cause of hepatic porphyria.[1][2] It is an autosomal recessive disorder that results from inappropriately low levels of the enzyme ALA dehydratase (ALAD, also called porphobilinogen synthase), which is required for normal heme synthesis.[1]

References

  1. 1.0 1.1 Jaffe EK, Stith L (2007). "ALAD porphyria is a conformational disease". American Journal of Human Genetics. 80 (2): 329–37. doi:10.1086/511444. PMC 1785348. PMID 17236137. Unknown parameter |month= ignored (help)
  2. Doss M, von Tiepermann R, Schneider J, Schmid H (1979). "New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation". Klinische Wochenschrift. 57 (20): 1123–7. PMID 513604. Unknown parameter |month= ignored (help)

Template:SIB Template:Heme metabolism disorders

Template:WH Template:WS