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Summary
CYSTINYLGLYCINURIA
MEMBRANE-BOUND DIPEPTIDASE (CYTEINYL-DIPEPTIDASE) DEFICIENCY
179780
OMIM = Online Medalian Inheritance of Men
16q24.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
membrane-bound dipeptidase deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect [Mayatepek E,  2005]
symptoms
hearing defect, deafness
mental retardation
motor retardation
peripheral neuropathy
psychomotor retardation
laboratory finding
Cystinylglycine0.000.00 increasedurineno data
Cystinylglycine increasedplasmaadolescence
EEG abnormalities - --
Cysteinyl leukotrienes (LTE4) decreasedurineadolescence
Cysteinyl leukotrienes (LTD4) increasedurineadolescence
L-Cysteine increasedurineadolescence
EMG abnormalities - -
Literature
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Marcadier JL,et al.Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaOrphanet J Rare Dis80982013
Fukao T,et al.The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentationJ Hum Genet5911609-6142014
Vilardo E,Rossmanith WMolecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complexNucleic Acids Res43105112-51192015