Visit Metagene.de!
Summary
CYSTINYLGLYCINURIA
MEMBRANE-BOUND DIPEPTIDASE (CYTEINYL-DIPEPTIDASE) DEFICIENCY, RENAL DIPEPTIDASE
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
a new neurometabolic disorder?
symptoms
hearing defect, deafness
mental retardation
motor retardation
peripheral neuropathy
laboratory finding
Cystinylglycine0.000.00 increasedurineno data
Cystinylglycine increasedplasma
EEG abnormalities -
Cysteinyl leukotrienes (LTC4, LTD4, LTE4)0.000.00 increasedurineno data
Cysteinyl leukotrienes (LTC4, LTD4, LTE4)0.000.00 decreasedurineno data
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