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Summary
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA ARCL3A
PYRROLINE-5-CARBOXYLATE SYNTHASE DEFICIENCY DE BARSY SYNDROME
219150
OMIM = Online Medalian Inheritance of Men
35664
10q24.1
  • arginine
rare
autosomal recessive
mutation in the ALDH18A1 gene
symptoms
cataract
cutis laxa
developmental delay
failure to thrive
hernia
hyperammonemia
intrauterine growth retardation
mental retardation
progressive neurologic defect
skin hyperelasticity
small for gestational age (SGA), intrauterine growth retardation (IUGR)
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