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Summary
CYSTATHIONINURIA
GAMMA-CYSTATHIONASE DEFICIENCY (CTH)
219500
OMIM = Online Medalian Inheritance of Men
212
1q31.1
  • Vitamin B6 (pyridoxine)
rare
autosomal recessive
cysthationinuria : premature infants vitamin B6 deficiency thyrotoxicosis generalized liver damage methylenetetrahydrofolate reductase clbC mutations vitamin B12 or folate deficiency
symptoms
Amino acids, plasma
Amino acids, urine
behavior, hyperactive, restless
congenital heart defect
diabetes insipidus
ear anomalies (pits, creases)
mental retardation
no clinical signs or symptoms
seizures
laboratory finding
Cysteinyl leukotrienes (LTB4)10.00100.00 -Ámol/lplasma
Cysteinyl leukotrienes (LTB4)0.000.0016.00147.00increasedurinenewborn
gamma-Cystathionase 100.00decreased activityliver
Cysteinyl leukotrienes (LTB4)0.5010.000.000.00-Ámol/lcerebrospinal fluid
N-Acetylcystathionine134.00474.00 -Ámol/24hurineno data
L-Cystathionine increasedplasma
L-Cystathionine increasedurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Schollen Eet al.Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)Hum Mutat163247-2522000