Inherited Porphyrias

Robert J. Desnick; Manisha Balwani; Karl E. Anderson

doi:10.1016/B978-0-12-812535-9.00010-8

Inherited Porphyrias

Robert J. Desnick, Manisha Balwani, Karl E. Anderson

Internal Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

3 Scopus citations

Abstract

The porphyrias are a group of inherited metabolic diseases, with each due to the deficient activity of a specific enzyme in the heme biosynthetic pathway. These are inherited as autosomal dominant, autosomal recessive, or X-linked traits, with the exception of Porphyria Cutanea Tarda, which is usually sporadic. The most common manifestations are related to the accumulation of porphyrin precursors or porphyrins, resulting in either acute neurological attacks, or cutaneous photosensitivity, or both. Multiple mutations have been identified in the genes, encoding the specific enzyme that is deficient in each of the porphyrias. Specific diagnosis criteria and treatment modalities are available for the porphyrias.

Original language	English (US)
Title of host publication	Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Subtitle of host publication	Metabolic Disorders
Publisher	Elsevier
Pages	373-411
Number of pages	39
ISBN (Electronic)	9780128125359
DOIs	https://doi.org/10.1016/B978-0-12-812535-9.00010-8
State	Published - Jan 1 2020

Keywords

Acute attacks
Acute hepatic porphyrias
DNA diagnostics
Erythropoietic protoporphyrias
Heme biosynthesis
Phototoxicity
Treatment

ASJC Scopus subject areas

General Medicine
General Biochemistry, Genetics and Molecular Biology

Access to Document

10.1016/B978-0-12-812535-9.00010-8

Cite this

@inbook{7857d9faf5004f6d90b066486ff9bddd,

title = "Inherited Porphyrias",

abstract = "The porphyrias are a group of inherited metabolic diseases, with each due to the deficient activity of a specific enzyme in the heme biosynthetic pathway. These are inherited as autosomal dominant, autosomal recessive, or X-linked traits, with the exception of Porphyria Cutanea Tarda, which is usually sporadic. The most common manifestations are related to the accumulation of porphyrin precursors or porphyrins, resulting in either acute neurological attacks, or cutaneous photosensitivity, or both. Multiple mutations have been identified in the genes, encoding the specific enzyme that is deficient in each of the porphyrias. Specific diagnosis criteria and treatment modalities are available for the porphyrias.",

keywords = "Acute attacks, Acute hepatic porphyrias, DNA diagnostics, Erythropoietic protoporphyrias, Heme biosynthesis, Phototoxicity, Treatment",

author = "Desnick, {Robert J.} and Manisha Balwani and Anderson, {Karl E.}",

year = "2020",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-812535-9.00010-8",

language = "English (US)",

pages = "373--411",

booktitle = "Emery and Rimoin{\textquoteright}s Principles and Practice of Medical Genetics and Genomics",

publisher = "Elsevier",

}

TY - CHAP

T1 - Inherited Porphyrias

AU - Desnick, Robert J.

AU - Balwani, Manisha

AU - Anderson, Karl E.

PY - 2020/1/1

Y1 - 2020/1/1

N2 - The porphyrias are a group of inherited metabolic diseases, with each due to the deficient activity of a specific enzyme in the heme biosynthetic pathway. These are inherited as autosomal dominant, autosomal recessive, or X-linked traits, with the exception of Porphyria Cutanea Tarda, which is usually sporadic. The most common manifestations are related to the accumulation of porphyrin precursors or porphyrins, resulting in either acute neurological attacks, or cutaneous photosensitivity, or both. Multiple mutations have been identified in the genes, encoding the specific enzyme that is deficient in each of the porphyrias. Specific diagnosis criteria and treatment modalities are available for the porphyrias.

AB - The porphyrias are a group of inherited metabolic diseases, with each due to the deficient activity of a specific enzyme in the heme biosynthetic pathway. These are inherited as autosomal dominant, autosomal recessive, or X-linked traits, with the exception of Porphyria Cutanea Tarda, which is usually sporadic. The most common manifestations are related to the accumulation of porphyrin precursors or porphyrins, resulting in either acute neurological attacks, or cutaneous photosensitivity, or both. Multiple mutations have been identified in the genes, encoding the specific enzyme that is deficient in each of the porphyrias. Specific diagnosis criteria and treatment modalities are available for the porphyrias.

KW - Acute attacks

KW - Acute hepatic porphyrias

KW - DNA diagnostics

KW - Erythropoietic protoporphyrias

KW - Heme biosynthesis

KW - Phototoxicity

KW - Treatment

UR - http://www.scopus.com/inward/record.url?scp=85147600798&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85147600798&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-812535-9.00010-8

DO - 10.1016/B978-0-12-812535-9.00010-8

M3 - Chapter

AN - SCOPUS:85147600798

SP - 373

EP - 411

BT - Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

PB - Elsevier

ER -

Inherited Porphyrias

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this