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Summary
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (CHLND)
614482
OMIM = Online Medalian Inheritance of Men
300313
3q25.31
rare
autosomal recessive
mutation in the SLC33A1 gene
symptoms
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
defect of walking, running, rising or climbing
early death
hearing defect, deafness
hypotonia
myelination, incomplete, hypomyelination
nystagmus
onset, infancy
onset, neonatal
psychomotor retardation
seizures
speech development, delayed, abnormal
laboratory finding
MRS, brain, abnormalities -
Copper decreasedserum
Ceruloplasmin decreasedserum
MRI, brain, abnormalities -
Literature
Zhang MH,Gong JY, Wang JSCitrin deficiency presenting as acute liver failure in an eight-month-old infantWorld J Gastroenterol21237331-73342015
Hayasaka K,Numakura C, Watanabe H.Treatment and Pathomechanism of Citrin DeficiencyBrain Nerve676739-7472015
Zheng QQ,et al.Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular StudyBiomed Res Int002016
Gong Z,et al.Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary AtresiaEur J Pediatr Surg263255-2592016
Togawa T,et al.Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation SequencingJ Pediatr102016