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Summary
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT HOMG5
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
248190
OMIM = Online Medalian Inheritance of Men
2196
1p24.2
rare
autosomal recessive
mutation in the tight-junction gene claudin-19
symptoms
infections (urinary tract)
myopia
nystagmus
onset, childhood
renal failure, acute/chronic
retinitis pigmentosa
tetany
urolithiasis, kidney stones
laboratory finding
Magnesium decreasedserum
Magnesium increasedurine
Calcium increasedurine
Literature
Raval DB,et al.Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysisMol Genet Metab Rep1008-102016
Erdol S,et al.An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?J Pediatr Hematol Oncol388661-6622016
Lindner M,Hoffmann GF, Matern DNewborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meetingJ Inherit Metab Dis335521-5262010
Schatz UA,Ensenauer RThe clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened populationJ Inherit Metab Dis335513-5202010
Lang TFAdult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)J Inherit Metab Dis326675-6832009
Knowles JA,Dimopoulos IS, MacDonald IMRETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSISRetin Cases Brief Rep002017