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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

  • Czech description

Classification

  • Type

    C - Chapter in a specialist book

  • CEP classification

  • 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