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Summary
PYRROLINE-5-CARBOXYLATE SYNTHASE DEFICIENCY
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA ARCL3A DE BARSY SYNDROME A
219150
OMIM = Online Medalian Inheritance of Men
35664
10q24.1
  • arginine
rare
autosomal recessive 
symptoms
cataract
cutis laxa
failure to thrive
hernia
hyperammonemia
joint hypermobilty, dislocations
mental retardation
progressive neurologic defect
skin hyperelasticity
visible veins
laboratory finding
Ammonia normal-increasedblood
Ornithine decreasedplasma
Citrulline decreasedplasma
Arginine decreasedplasma
Proline decreasedplasma
Literature
Pinto Let al.Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic strokeJ Inherit Metab Dis291205-2062006
Brivet Met al.Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysisJ Inherit Metab Dis170271-2741994
Hauser MAChamberlain JSProgress towards gene therapy for Duchenne muscular dystrophyJ Endocrinol149048109-1996
de Kremer RDet al.Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiencyMetab Brain Dis1711318-2002
Pollitt RJDisorders of mitochondrial long-chain fatty acid oxidationJ Inherit Metab Dis184473-4901995
Dantas MFet al.3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningHum Mutat2621642005
Langer JCet al.False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrheaJ Pediatr Surg26111282-12841991
Stadler SCet al.Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylaseBiochem Biophys Res Commun3343939-9462005