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Summary
MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (MEDNIK)
ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE
609313
OMIM = Online Medalian Inheritance of Men
171851
7q22.1
rare
autosomal recessive
mutation in the AP1S1 gene
symptoms
cataract
cholestasis
cirrhosis or fibrosis of liver
developmental delay
diarrhea
erythema
growth retardation
hearing defect, deafness
hyperkeratosis
hypotonia
ichthyosis
liver involvement or dysfunction
mental retardation
onset, neonatal
peripheral neuropathy
laboratory finding
Very-long-chain fatty acids increasedserum
Copper decreasedserum
Ceruloplasmin decreasedserum
Literature
Komatsu M,et al.Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARalphaBiochim Biophys Acta18523473-4812015
Togawa T,et al.Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation SequencingJ Pediatr102016
McAndrew RP,Vockley J, Kim JJMolecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109RJ Inherit Metab Dis316761-7682008
Kogure T,et al.Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate dietHepatol Res446707-7122014
Magnusson M,et al.Dimethylglycine Deficiency and the Development of DiabetesDiabetes6483010-30162015