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Summary
DENT DISEASE 2
OCRL1
300555
OMIM = Online Medalian Inheritance of Men
93623
Xq26.1
rare
X-linked recessive
mutation in the OCRL gene
symptoms
aminoaciduria
cognitive impairment
developmental delay
Fanconi syndrome
nephrocalcinosis
nephrotic syndrome
onset, childhood
proteinuria
renal failure, acute/chronic
short stature
umbilical hernia
laboratory finding
Creatine kinase 500.00 U/lserum
Lactate dehydrogenase (LDH) 650.00 U/lserum
Calcium2.503.50 mmol/mol creatinineurine
Protein + - ++urine
Literature
Ijlst L,Wanders RJA simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblastsAnn Clin Biochem303293-2971993
Silva I,et al.Childhood hypophosphatasia with myopathy: clinical report with recent updateActa Reumatol Port37192-962012
Rath M,et al.Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport diseaseJ Neurol Sci3790296-2972017
Merinero B,et al.Four Years Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening CentersJIMD Rep002017
de Brouwer APM,Duley JA, Christodoulou JPhosphoribosylpyrophosphate Synthetase SuperactivityGeneReviews-« Internet002015
Mornet E,Nunes MEHypophosphatasiaGeneReviews-« Internet002016
Anderson M,et al.Dicarboxylic Acid Excretion in Normal Formula-Fed and Breastfed InfantsNutr Clin Pract002016
Tucci SVery long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse modelsJ Inherit Metab Dis403317-3232017
Numa-Kinjoh N,et al.Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasiaMol Genet Metab1154180-1852015
Zhao XJ,et al.Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal probandTohoku J Exp Med. 2011 Dec225(4):273-6.2254273-2762011
He M,et al.Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayJ Clin Invest1213976-9782011