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Summary
GLUTATHIONE SYNTHETASE DEFICIENCY
PYROGLUTAMIC ACIDURIA 5-OXOPROLINURIA ACIDEMIA, PYROGLUTAMIC, GSD
266130
OMIM = Online Medalian Inheritance of Men
32
20q11.22
  • N-acetylcysteine
  • vitamin C (ascorbate)
rare
autosomal recessive
two types: A (severe form) and B (milder form)
symptoms
Amino acids, plasma
anemia
ataxia
cerebellar atrophy or hypoplasia
hemolysis
hyperammonemia
jaundice
mental retardation
metabolic acidosis
motor retardation
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
seizures
spastic diplegia/quadriplegia
thromboembolism
tremor or twitching
vomiting
laboratory finding
5-Oxoproline4000.0030000.0042.00115.00mmol/mol creatinineurine
Glutathione0.300.60 blood
Proline300.001000.00110.00417.00-Ámol/lplasma
5-Oxoproline3.004.0013.00161.00-Ámol/lplasma
Ammonia150.00350.0025.0080.00-Ámol/lblood
pH7.007.407.357.45no unitblood
Glutathione synthetase 100.00decreased activityfibroblasts
Glutathione synthetase 100.00decreased activityerythrocytes
Cysteinyl leukotrienes (LTC4)0.000.00 abnormalurineno data
Cysteinyl leukotrienes (LTC4) abnormalplasma
Cystinylglycine absentplasma
Literature
Tamminga RYet al.Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannosePediatr Hematol Oncol258762-7682008
Babovic-Vuksanovic DOBrien JFLaboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoformsMol Diagn Ther115303-3112007
Miller WLMitochondrial specifity of the early steps in steroidogenesisJ Steroid Biochem Mol Biol550607-6161995
Liem YSet al.Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-IbNat Clin Pract Gastroenterol Hepatol54220-2242008
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Mention Ket al.Development of liver disease despite mannose treatment in two patients with CDG-IbMol Genet Metab93140-432008
Quintana Eet al.Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.J Chromatogr B Analyt Technol Biomed Life Sci877242513-25182009
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Xu Xet al.Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasisAnn N Y Acad Sci10120299-3052004
de Lonlay PSeta NThe clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-IbBiochim Biophys Acta002008
Vleugels Wet al.RFT1 deficiency in three novel CDG patientsHum Mutat002009
Gaull GEet al.Milk protein quantity and quality in low-birth weight infants. III.Effects on sulfur amino acids in plasma and urine J Pediatr900348-3551977