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INBORN ERROR [6 records]
Record 1 - internal organization data 2011-07-08
Record 1, English
Record 1, Subject field(s)
- Endocrine System and Metabolism
Record 1, Main entry term, English
- pyroglutamic acid
1, record 1, English, pyroglutamic%20acid
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- 5-oxoproline 1, record 1, English, 5%2Doxoproline
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
5-oxoprolinuria is a metabolic, disorder caused by an inborn error of glutathione metabolism. It is characterized by excretion of massive amounts of 5-oxoproline(pyroglutamic acid) in the urine, and abnormally high levels of this acid in the blood and cerebrospinal fluid. The disorder is caused by a deficiency of the enzyme glutathione synthetase. Functioning of the central nervous system is impaired. High acidity levels in the blood and body tissues(metabolic acidosis) usually occur. 1, record 1, English, - pyroglutamic%20acid
Record 1, French
Record 1, Domaine(s)
- Systèmes endocrinien et métabolique
Record 1, Main entry term, French
- acide L-pyroglutamique
1, record 1, French, acide%20L%2Dpyroglutamique
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- 5-oxoproline 1, record 1, French, 5%2Doxoproline
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Acidémie pyroglutamique. Maladie métabolique héréditaire récessive autosomique caractérisée par l'accumulation et l'excrétion urinaire excessive d'acide pyroglutamique (5-oxoproline), due au défaut de l'Activité de la glutathionsynthétase. Elle entraîne une anémie hémolytique chronique et une acidose métabolique, cette dernière pouvant faire défaut. 1, record 1, French, - acide%20L%2Dpyroglutamique
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Sistemas endocrino y metabólico
Record 1, Main entry term, Spanish
- ácido piroglutámico
1, record 1, Spanish, %C3%A1cido%20piroglut%C3%A1mico
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2003-07-21
Record 2, English
Record 2, Subject field(s)
- Genetics
Record 2, Main entry term, English
- inborn error of metabolism 1, record 2, English, inborn%20error%20of%20metabolism
Record 2, Abbreviations, English
Record 2, Synonyms, English
- inborn metabolic disorder 1, record 2, English, inborn%20metabolic%20disorder
Record 2, Textual support, English
Record number: 2, Textual support number: 1 OBS
Genetically determined biochemical disorder due to specific congenital defects in the structure or function of protein molecules. 1, record 2, English, - inborn%20error%20of%20metabolism
Record 2, French
Record 2, Domaine(s)
- Génétique
Record 2, Main entry term, French
- maladie enzymatique
1, record 2, French, maladie%20enzymatique
feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- dysmétabolie 1, record 2, French, dysm%C3%A9tabolie
feminine noun
- erreur innée du métabolisme 2, record 2, French, erreur%20inn%C3%A9e%20du%20m%C3%A9tabolisme
feminine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 OBS
Maladie due à un défaut constitutionnel et héréditaire qui empêche la synthèse d'une enzyme: Ex. l'oligophrénie phénylpyruvique. 1, record 2, French, - maladie%20enzymatique
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Genética
Record 2, Main entry term, Spanish
- error innato del metabolismo
1, record 2, Spanish, error%20innato%20del%20metabolismo
correct, masculine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2003-04-04
Record 3, English
Record 3, Subject field(s)
- Endocrine System and Metabolism
- Liver and Biliary Ducts
- Genetics
Record 3, Main entry term, English
- Andersen’s disease
1, record 3, English, Andersen%26rsquo%3Bs%20disease
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- Andersen disease 2, record 3, English, Andersen%20disease
correct
- Najjar-Andersen syndrome 1, record 3, English, Najjar%2DAndersen%20syndrome
correct
- glycogenosis IV 3, record 3, English, glycogenosis%20IV
correct
- glycogen storage disease type IV 3, record 3, English, glycogen%20storage%20disease%20type%20IV
correct
- GSD IV 1, record 3, English, GSD%20IV
correct
- alpha 1,4-glucan-6-glucosyl transferase deficiency 1, record 3, English, alpha%201%2C4%2Dglucan%2D6%2Dglucosyl%20transferase%20deficiency
correct
- amylopectinosis brancher deficiency 1, record 3, English, amylopectinosis%20brancher%20deficiency
- brancher enzyme deficiency 1, record 3, English, brancher%20enzyme%20deficiency
- brancher deficiency 2, record 3, English, brancher%20deficiency
- amylopectinosis 2, record 3, English, amylopectinosis
- familial cirrhosis with deposition of abnormal glycogen 1, record 3, English, familial%20cirrhosis%20with%20deposition%20of%20abnormal%20glycogen
- liver cirrhosis-abnormal glycogen syndrome 1, record 3, English, liver%20cirrhosis%2Dabnormal%20glycogen%20syndrome
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
An inborn disorder of the endocrine glands with error of glycogen metabolism due to a 1, 4-glucan-alpha 1, 4-glucan-6-glucosyl transferase deficiency. 1, record 3, English, - Andersen%26rsquo%3Bs%20disease
Record 3, French
Record 3, Domaine(s)
- Systèmes endocrinien et métabolique
- Foie et voies biliaires
- Génétique
Record 3, Main entry term, French
- maladie d'Andersen
1, record 3, French, maladie%20d%27Andersen
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- glycogénose musculaire type IV 2, record 3, French, glycog%C3%A9nose%20musculaire%20type%20IV
feminine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 CONT
Le déficit en enzyme branchante (amylo-1,4-> 1,6-transglycosylase) ou glycogénose de type IV (maladie d'Andersen) a un spectre très étendu de phénotypes cliniques. L'enzyme est codée par un gène porté par le chromosome 3. Le déficit enzymatique, transmis selon un mode autosomique récessif, peut être cliniquement silencieux ou s'exprimer par une atteinte hépatique, cardiaque, musculaire, squellettique ou cérébrale. [...] Le diagnostic repose sur la mise en évidence de l'accumulation glycogénique [...] dans les tissus atteints. 1, record 3, French, - maladie%20d%27Andersen
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2002-03-21
Record 4, English
Record 4, Subject field(s)
- Endocrine System and Metabolism
Record 4, Main entry term, English
- phenylketonuria
1, record 4, English, phenylketonuria
correct
Record 4, Abbreviations, English
- PKU 2, record 4, English, PKU
correct
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 CONT
Phenylketonuria was first described as a clinical entity in 1934 by Asjborn Fölling, who surmised that the disorder was autosomal recessive and an inborn error of metabolism.... Phenylketonuria [is] a generic term for severe hyperphenylalaninemia(>1 mM), low phenylalanine tolerance(<500 mg per day), and high risk of mental retardation in the absence of treatment 2, record 4, English, - phenylketonuria
Record 4, French
Record 4, Domaine(s)
- Systèmes endocrinien et métabolique
Record 4, Main entry term, French
- phénylcétonurie
1, record 4, French, ph%C3%A9nylc%C3%A9tonurie
correct, feminine noun
Record 4, Abbreviations, French
- PCU 2, record 4, French, PCU
correct, feminine noun
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 CONT
La phénylcétonurie est une maladie génétique héréditaire transmise par les deux parents (porteurs sains) à leur enfant. Elle provient d'un trouble de la transformation de la phénylalanine en tyrosine. 2, record 4, French, - ph%C3%A9nylc%C3%A9tonurie
Record 4, Spanish
Record 4, Campo(s) temático(s)
- Sistemas endocrino y metabólico
Record 4, Main entry term, Spanish
- fenilcetonuria
1, record 4, Spanish, fenilcetonuria
feminine noun
Record 4, Abbreviations, Spanish
Record 4, Synonyms, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 2002-01-17
Record 5, English
Record 5, Subject field(s)
- Genetics
Record 5, Main entry term, English
- inborn error 1, record 5, English, inborn%20error
Record 5, Abbreviations, English
Record 5, Synonyms, English
Record 5, French
Record 5, Domaine(s)
- Génétique
Record 5, Main entry term, French
- erreur innée
1, record 5, French, erreur%20inn%C3%A9e
feminine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record 5, Spanish
Record 5, Campo(s) temático(s)
- Genética
Record 5, Main entry term, Spanish
- error congénito
1, record 5, Spanish, error%20cong%C3%A9nito
masculine noun
Record 5, Abbreviations, Spanish
Record 5, Synonyms, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 2001-06-04
Record 6, English
Record 6, Subject field(s)
- Diagnostic Procedures (Medicine)
- Symptoms (Medicine)
Record 6, Main entry term, English
- hyperuricemia
1, record 6, English, hyperuricemia
correct
Record 6, Abbreviations, English
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, Textual support number: 1 CONT
... uricemia per se in humans is the abnormal result of an inborn error of urate catabolism. In terms of the pathogenesis of gout, which is caused by urate crystals rather than urate in solution, "hyperuricemia" is defined by the solubility of urate in body fluids, not by statistical distributions of urate levels. 1, record 6, English, - hyperuricemia
Record 6, French
Record 6, Domaine(s)
- Méthodes diagnostiques (Médecine)
- Symptômes (Médecine)
Record 6, Main entry term, French
- hyperuricémie
1, record 6, French, hyperuric%C3%A9mie
correct, feminine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
Record 6, Textual support, French
Record number: 6, Textual support number: 1 CONT
L'excès d'acide urique dans le sang ou "hyperuricémie". 1, record 6, French, - hyperuric%C3%A9mie
Record 6, Spanish
Record 6, Textual support, Spanish
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