Symptoma

5-Oxoprolinuria

Clinically affected patients present with severe metabolic acidosis, 5-oxoprolinuria, increased rate of hemolysis and defective function of the central nervous system. [ncbi.nlm.nih.gov]

  • Amyloidosis

    Amyloidosis. New York: McGraw-Hill; 2001. pp. 5345–5378. [ Google Scholar ] Bernier FP, Snyder FF, McLeod DR. Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay. [ncbi.nlm.nih.gov]

  • Pediatric Disease

    Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. [books.google.ro]

  • Hypersomnia

    Patients were hospitalized between the age of 13days to 1year and 3months for hypersomnia, developmental retardation, feeding deficiency, vomiting, icterus and recurrent pneumonia. All patients had significantly elevated urine 5-oxoproline. [ncbi.nlm.nih.gov]

  • Pneumonia

    We report the unusual case of a 35-year-old woman who initially presented with staphylococcal pneumonia but went on to develop a transient high anion gap metabolic acidosis. [ncbi.nlm.nih.gov]

    We highlight the case of a 35-year-old woman who presented initially with an uncomplicated staphylococcal pneumonia but who went on to develop a transient but severe high anion gap metabolic acidosis associated with markedly increased urinary excretion [thefreelibrary.com]

  • Productive Cough

    On admission the patient was alert and orientated, with a mild pyrexia, slight breathlessness, and a productive cough. [thefreelibrary.com]

  • Vomiting

    Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. [ncbi.nlm.nih.gov]

    –Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. [onlinelibrary.wiley.com]

    Parents should be advised that if a child shows warning signs of the disorder, such as lethargy or vomiting, they should immediately seek medical attention. [idph.state.il.us]

    Case A 15-month-old girl, from non-consanguineous parents, presented to the emergency department with an 11-day history of diarrhoea (15–20 times daily) and vomiting (after every feed). [docksci.com]

  • Choking

    She was admitted in our hospital due to repeated episodes of choking (respiratory difficulties and perioral cyanosis shortly after breast feeding) and generalized tonic-clonic seizures. [ncbi.nlm.nih.gov]

  • Cyanosis

    She was admitted in our hospital due to repeated episodes of choking (respiratory difficulties and perioral cyanosis shortly after breast feeding) and generalized tonic-clonic seizures. [ncbi.nlm.nih.gov]

  • Arthritis

    An 82-year-old white woman was admitted to our intensive care unit because of septic shock caused by right knee methicillin-sensitive Staphylococcus aureus-induced arthritis. [ncbi.nlm.nih.gov]

    Case presentation An 82-year-old white woman was admitted to our intensive care unit because of septic shock caused by right knee methicillin-sensitive Staphylococcus aureus -induced arthritis. [springermedizin.de]

  • Neonate-Onset

    Abstract Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma-glutamyl cycle leads to a generalized glutathione deficiency. [ncbi.nlm.nih.gov]

  • Normocytic Normochromic Anemia

    normochromic anemia (hemoglobin: 8.5 g/dL: control values 9.0–13.0) with low plasma cobalamin (139 pmol/L: control values 198), normal plasma total homocysteine values (3.8 μmol/L: control values Genetic findings. ( a ) Available DNAs from probands and [ncbi.nlm.nih.gov]

  • C-Reactive Protein Increased

    Results for urea and electrolytes, arterial blood gases, and liver function tests were all normal, with C-reactive protein increased at 230 mg/L (reference range, Over the first 2 weeks of admission, the patient's clinical condition ameliorated with improvement [thefreelibrary.com]

    Results for urea and electrolytes, arterial blood gases, and liver function tests were all normal, with C-reactive protein increased at 230 mg/L (reference range, Over the first 2 weeks of admission, the patient’s clinical condition ameliorated with improvement [clinchem.aaccjnls.org]

After treatment by l-carnitine, vitamin E, B1, B2 and coenzyme Q10, three patients with GSS deficiency improved, but the two 5-oxoprolinase-deficient patients did not respond to treatment. 5-Oxoprolinase deficiency and GSS deficiency share some clinical [ncbi.nlm.nih.gov]

Treatment Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with GSD require prompt correction of any metabolic acidosis and/or hyperbilirubinemia to help prevent brain damage. [idph.state.il.us]

Key words Hereditary glutathione synthetase deficiency - 5-oxoprolinuria - Prognosis - Mental retardation - Retinal dysfunction [thieme-connect.com]

Prognosis A long-term follow up study of 28 patients with glutathione synthetase deficiency has showed that the factors most predictive of survival and long-term outcome are early diagnosis, correction of acidosis and early supplementation with vitamin [orpha.net]

Treatment Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with GSD require prompt correction of any metabolic acidosis and/or hyperbilirubinemia to help prevent brain damage. [idph.state.il.us]

This preview shows page 2 - 5 out of 9 pages. 5-oxoprolinuria, low levels of glutathione, and low activity of glutathione synthetase γ-Glutamyl Transpeptidase Deficiency  Etiology o Very rare autosomal recessive disease Subscribe to view the full document [coursehero.com]

It is important that all symptomatic patients with persistently elevated levels of 5-oxoproline and no obvious explanation are investigated for the genetic etiology. [sciencedirect.com]

It is important that all symptomatic patients with persistently elevated levels of 5-oxoproline and no obvious explanation are investigated for the genetic etiology. Copyright 2016 Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

Summary Epidemiology This disease has been detected in at least 70 patients in more than 50 families worldwide. Etiology Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. [orpha.net]

Epidemiology Frequency United States The frequency of glutathione synthetase deficiency is unknown. International Glutathione synthetase deficiency is very rare. [emedicine.com]

However, several other inborn errors of metabolism and pathophysiological conditions must be taken into account when discovering 5-oxoprolinuria. [ncbi.nlm.nih.gov]

[…] in phenylalanine, particularly when the child is growing; any products containing aspartame should be avoided Albinism  Etiology o Deficiency in the copper-containing enzyme tyrosinase, involved in the metabolic conversion of tyrosine to melanin  Pathophysiology [coursehero.com]

Journal of Molecular Pathophysiology 3.1 (2014), 17-19. [jmolpat.com]

Pathophysiology Glutathione is involved in several important biologic functions, including membrane transport, detoxification of xenobiotics, and protection of cells from free radicals. [emedicine.com]

Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. [dictionary.babylon-software.com]

Parents should understand treatment is not curative and all morbidity cannot be prevented. Genetic counseling services are recommended. [idph.state.il.us]

To explain how this works, you need to familiarize yourself briefly with the gamma-glutamyl cycle, a series of enyzmes and reactions involved in the metabolism of glutathione, an amino-acid derivative which appears to be important in the prevention of [renalfellow.blogspot.com]

Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. [ghr.nlm.nih.gov]

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