Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10452306" target="_blank" >RIV/00064165:_____/22:10452306 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/22:10452306

Result on the web

<a href="http://dx.doi.org/10.1007/978-3-030-67727-5_22" target="_blank" >http://dx.doi.org/10.1007/978-3-030-67727-5_22</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/978-3-030-67727-5_22" target="_blank" >10.1007/978-3-030-67727-5_22</a>

Result language

angličtina

Original language name

Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism

Original language description

The conversion of methionine to inorganic sulfate involves the formation of homocysteine encompassing transmethylation followed by transsulfuration. Several inherited enzyme deficiencies within this pathway have been described. Those causing hypermethioninemia may be confused with the many known secondary causes of increased methionine demanding diagnostic expediency. Most of the disorders have been described in small numbers of patients so that the full clinical spectrum of these is not known. Exceptions are methionine adenosyltransferase (MAT) I/III deficiency and cystathionine ß-synthase deficiency which causes classical homocystinuria, characterized primarily by an increased risk of thrombosis and embolism, lens dislocation, and other connective tissue involvement and cognitive impairment. While methionine adenosyltransferase I/III deficiency is only symptomatic in some patients causing different neurological problems and glycine N-methyltransferase deficiency affects liver function, other diseases causing hypermethioninemias may be associated with a multisystem disease of varying severity and progression. MAT II deficiency can be associated with thoracic aortic aneurysms in some heterozygotes for MAT2 mutations. Methanethiol oxidase deficiency causes cabbage-like breath odor (extraoral halitosis). The association of mercaptopyruvate sulfur transferase deficiency with cognitive impairment, as the only disease characteristic, is questionable. Isolated sulfite oxidase deficiency is characterized by refractory convulsions in early infancy, brain atrophy, severe psychomotor retardation, and lens dislocation. Ethylmalonic encephalopathy is a severe disorder manifesting with seizures, developmental delay and cognitive impairment, orthostatic acrocyanosis and petechia due to vasodilation, failure to thrive, and chronic hemorrhagic diarrhea. Measurement of plasma and urine amino acids and total homocysteine can detect many of the disorders described in this chapter, while other tests are necessary for others. Confirmatory tests are enzyme assays and/or mutation analysis. Treatment combines one or more of dietary restriction of precursors, substitution of essential products, pharmacologic doses of cofactors, and binding and removing of harmful metabolites. Early diagnosis and early treatment favor better outcome.

Czech name

—

Czech description

—

Type

C - Chapter in a specialist book

CEP classification

—

OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

<a href="/en/project/NV16-30384A" target="_blank" >NV16-30384A: Metabolism of organic and inorganic sulfur compounds in selected human diseases</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Book/collection name

Physician&apos;s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

ISBN

978-3-030-67726-8

Number of pages of the result

26

Pages from-to

365-390

Number of pages of the book

1534

Publisher name

Springer

Place of publication

Cham

UT code for WoS chapter

—