Disorders of Sulfur Amino Acid Metabolism
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10452314" target="_blank" >RIV/00064165:_____/22:10452314 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/22:10452314
Result on the web
<a href="https://doi.org/10.1007/978-3-662-63123-2_20" target="_blank" >https://doi.org/10.1007/978-3-662-63123-2_20</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/978-3-662-63123-2_20" target="_blank" >10.1007/978-3-662-63123-2_20</a>
Alternative languages
Result language
angličtina
Original language name
Disorders of Sulfur Amino Acid Metabolism
Original language description
Disorders of sulfur amino acid metabolism can affect methionine demethylation, homocysteine (Hcy) remethylation, Hcy transsulfuration (including classical homocystinuria), glutathione synthesis or cysteine/hydrogen sulfide oxidation. There may be altered blood or urinary concentrations of methionine, AdoMet, sarcosine, AdoHcy, total Hcy and cysteine, cystathionine, hydrogen sulfide, sulfite, thiosulfate or adenosine. The commonest methionine demethylation disorder is MAT I/III deficiency: this is often benign but can cause neurodevelopmental problems. Other features of demethylation disorders include liver disease (GNMT deficiency), myopathy (SAHH and ADK deficiencies), facial dysmorphism (ADK deficiency) or halitosis (MTO and MAT I/III deficiency). Methionine restriction may be beneficial in some patients with MAT I/III or ADK deficiency, CBS deficiency (classical homocystinuria) is the commonest disease in this group. Its severity ranges from a multisystemic childhood condition (with lens dislocation, osteoporosis, marfanoid features, central nervous system and vascular complications) to an isolated thromboembolic disease in adults. Treatment is primarily with pyridoxine in pyridoxine-responsive patients and a low-methionine diet +- betaine in non-responders. Treatment can prevent most complications even in pyridoxine non-responsive patients if they are diagnosed by neonatal screening. The other transsulfuration disorder, CTH deficiency, appears to be benign. Disorders of cysteine and hydrogen sulfide oxidation include SQOR deficiency, ethylmalonic encephalopathy, isolated SUOX deficiency and combined SUOX/xanthine oxidase deficiency due to impaired molybdenum cofactor (MoCo) synthesis. These are severe disorders with early-onset seizures or neurological complications; other problems may include diarrhoea, petechiae, acrocyanosis, lens dislocation or urolithiasis. MoCo deficiency type A can be treated with a synthetic precursor of the cofactor and ethylmalonic encephalopathy may profit from liver transplantation.
Czech name
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Czech description
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Classification
Type
C - Chapter in a specialist book
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
<a href="/en/project/GA19-08786S" target="_blank" >GA19-08786S: Interactions between sulfur metabolism and mitochondrial bioenergetics</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Book/collection name
Inborn Metabolic Diseases. Diagnosis and Treatment
ISBN
978-3-662-63122-5
Number of pages of the result
16
Pages from-to
407-422
Number of pages of the book
894
Publisher name
Springer
Place of publication
Berlin, Heidelberg
UT code for WoS chapter
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