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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE VII)
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA MEGCANN
616271
OMIM = Online Medalian Inheritance of Men
445038
11q13.4
very rare
autosomal recessive
mutation in the CLPB gene
symptoms
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
dysmorphism
early death
extrapyramidal signs
feeding difficulties, poor feeding
hypotonia
infections (severe or recurrent)
microcephaly (<2 SD for age)
neutropenia (decreased neutrophils)
onset, neonatal
seizures
laboratory finding
3-Methylglutaconic acid0.000.00 increasedurineall
Literature
Lee HHet al.Novel missense mutations, GCC Ala306- > GTC Val and ACG Thr318- > CCG Pro, in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the ChineseClin Endocrinol (Oxf)624418-4222005
Sass JOet al.Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiencyJ Inherit Metab Dis26180-822003
Sticova E,Jirsa MNew insights in bilirubin metabolism and their clinical implicationsWorld J Gastroenterol19386398-64072013
Sass JOet al.New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiencyAnn Clin Biochem410157-1592004
Kelly ALet al.Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolismJ Med Genet389599-6102001
Whitington PFet al.High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosisLancet36401690-16982004