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Summary
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
SPONDYLOENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
614875
OMIM = Online Medalian Inheritance of Men
99646
very rare (10 patients)
symptoms
hemangioma
metaphyseal chondromatosis
onset, childhood
onset, infancy
laboratory finding
2-Hydroxyglutaric acid (D)200.001000.00 mmol/mol Creaurine
Literature
Katata Y,et al.Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in JapanBrain Dev383341-3452016
Beesley C,et al.CLN8 disease caused by large genomic deletionsMol Genet Genomic Med5185-912016
Schulz A,et al.The CLN9 protein, a regulator of dihydroceramide synthaseJ Biol Chem28152784-27942006
Craiu D,et al.Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signsEur J Paediatr Neurol19178-862015
Mole SE,Williams RE, Goebel HH.Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinosesNeurogenetics63107-1262005
Pineda-Trujillo N,et al.A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onsetNeurology644740-7422005
Mancini C,et al.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutationsJ Neurol2621173-1782015