Disorders of heme biosynthesis

Norman G. Egger, Chul Lee, Karl Anderson

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Citations (Scopus)

Abstract

X-linked sideroblastic anemia is due to a deficiency of the erythroid form of the first enzyme in the heme biosynthetic pathway, 5-aminolevulinic acid synthase. Characteristics of the disease are variable, but typically include adult onset anemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness. Porphyrias are metabolic disorders due to deficiencies of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of heme pathway intermediates and their oxidized products. Symptoms and signs of the porphyrias are almost all due to effects on the nervous system or skin. The three most common porphyrias, acute intermittent porphyria, porphyria cutanea tarda and erythropoietic protoporphyria, differ considerably from each other. The first presents with acute neurovisceral symptoms and can be aggravated by some drugs, hormones and nutritional changes, and is treated with intravenous heme and carbohydrate loading. The skin is affected in the latter two although the lesions are usually distinct and treatment is different. Porphyrias are more often manifest in adults than are most metabolic diseases. All porphyrias are inherited, with the exception of porphyria cutanea tarda, which is due to an acquired enzyme deficiency in liver, although an inherited deficiency is a predisposing factor in some cases.

Original languageEnglish (US)
Title of host publicationInborn Metabolic Diseases: Diagnosis and Treatment
PublisherSpringer Berlin Heidelberg
Pages451-464
Number of pages14
ISBN (Print)3540287833, 9783540287834
DOIs
StatePublished - 2006

Fingerprint

Porphyrias
Heme
Porphyria Cutanea Tarda
Enzymes
Erythropoietic Protoporphyria
Acute Intermittent Porphyria
Pyridoxine
Aminolevulinic Acid
Skin
Erythropoiesis
Biosynthetic Pathways
Metabolic Diseases
Causality
Nervous System
Signs and Symptoms
Anemia
Iron
Hormones
Liver
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Egger, N. G., Lee, C., & Anderson, K. (2006). Disorders of heme biosynthesis. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 451-464). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-540-28785-8_36

Disorders of heme biosynthesis. / Egger, Norman G.; Lee, Chul; Anderson, Karl.

Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, 2006. p. 451-464.

Research output: Chapter in Book/Report/Conference proceedingChapter

Egger, NG, Lee, C & Anderson, K 2006, Disorders of heme biosynthesis. in Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, pp. 451-464. https://doi.org/10.1007/978-3-540-28785-8_36
Egger NG, Lee C, Anderson K. Disorders of heme biosynthesis. In Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg. 2006. p. 451-464 https://doi.org/10.1007/978-3-540-28785-8_36
Egger, Norman G. ; Lee, Chul ; Anderson, Karl. / Disorders of heme biosynthesis. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Berlin Heidelberg, 2006. pp. 451-464
@inbook{cbf74202c357460dab06f975fbf91825,
title = "Disorders of heme biosynthesis",
abstract = "X-linked sideroblastic anemia is due to a deficiency of the erythroid form of the first enzyme in the heme biosynthetic pathway, 5-aminolevulinic acid synthase. Characteristics of the disease are variable, but typically include adult onset anemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness. Porphyrias are metabolic disorders due to deficiencies of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of heme pathway intermediates and their oxidized products. Symptoms and signs of the porphyrias are almost all due to effects on the nervous system or skin. The three most common porphyrias, acute intermittent porphyria, porphyria cutanea tarda and erythropoietic protoporphyria, differ considerably from each other. The first presents with acute neurovisceral symptoms and can be aggravated by some drugs, hormones and nutritional changes, and is treated with intravenous heme and carbohydrate loading. The skin is affected in the latter two although the lesions are usually distinct and treatment is different. Porphyrias are more often manifest in adults than are most metabolic diseases. All porphyrias are inherited, with the exception of porphyria cutanea tarda, which is due to an acquired enzyme deficiency in liver, although an inherited deficiency is a predisposing factor in some cases.",
author = "Egger, {Norman G.} and Chul Lee and Karl Anderson",
year = "2006",
doi = "10.1007/978-3-540-28785-8_36",
language = "English (US)",
isbn = "3540287833",
pages = "451--464",
booktitle = "Inborn Metabolic Diseases: Diagnosis and Treatment",
publisher = "Springer Berlin Heidelberg",

}

TY - CHAP

T1 - Disorders of heme biosynthesis

AU - Egger, Norman G.

AU - Lee, Chul

AU - Anderson, Karl

PY - 2006

Y1 - 2006

N2 - X-linked sideroblastic anemia is due to a deficiency of the erythroid form of the first enzyme in the heme biosynthetic pathway, 5-aminolevulinic acid synthase. Characteristics of the disease are variable, but typically include adult onset anemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness. Porphyrias are metabolic disorders due to deficiencies of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of heme pathway intermediates and their oxidized products. Symptoms and signs of the porphyrias are almost all due to effects on the nervous system or skin. The three most common porphyrias, acute intermittent porphyria, porphyria cutanea tarda and erythropoietic protoporphyria, differ considerably from each other. The first presents with acute neurovisceral symptoms and can be aggravated by some drugs, hormones and nutritional changes, and is treated with intravenous heme and carbohydrate loading. The skin is affected in the latter two although the lesions are usually distinct and treatment is different. Porphyrias are more often manifest in adults than are most metabolic diseases. All porphyrias are inherited, with the exception of porphyria cutanea tarda, which is due to an acquired enzyme deficiency in liver, although an inherited deficiency is a predisposing factor in some cases.

AB - X-linked sideroblastic anemia is due to a deficiency of the erythroid form of the first enzyme in the heme biosynthetic pathway, 5-aminolevulinic acid synthase. Characteristics of the disease are variable, but typically include adult onset anemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness. Porphyrias are metabolic disorders due to deficiencies of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of heme pathway intermediates and their oxidized products. Symptoms and signs of the porphyrias are almost all due to effects on the nervous system or skin. The three most common porphyrias, acute intermittent porphyria, porphyria cutanea tarda and erythropoietic protoporphyria, differ considerably from each other. The first presents with acute neurovisceral symptoms and can be aggravated by some drugs, hormones and nutritional changes, and is treated with intravenous heme and carbohydrate loading. The skin is affected in the latter two although the lesions are usually distinct and treatment is different. Porphyrias are more often manifest in adults than are most metabolic diseases. All porphyrias are inherited, with the exception of porphyria cutanea tarda, which is due to an acquired enzyme deficiency in liver, although an inherited deficiency is a predisposing factor in some cases.

UR - http://www.scopus.com/inward/record.url?scp=84895330683&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84895330683&partnerID=8YFLogxK

U2 - 10.1007/978-3-540-28785-8_36

DO - 10.1007/978-3-540-28785-8_36

M3 - Chapter

AN - SCOPUS:84895330683

SN - 3540287833

SN - 9783540287834

SP - 451

EP - 464

BT - Inborn Metabolic Diseases: Diagnosis and Treatment

PB - Springer Berlin Heidelberg

ER -