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Summary
HYPOMAGNESEMIA 2, RENAL HOMG2
154020
OMIM = Online Medalian Inheritance of Men
34528
11q23.3
rare
autosomal dominant
mutation in the FXYD2 gene
symptoms
chondrocalcinosis
hypokalemia
muscle weakness
onset, adolescent
onset, childhood
onset, infancy
renal failure, acute/chronic
seizures
laboratory finding
Potassium decreasedserum
Magnesium decreasedserum
Magnesium increasedurine
Calcium increasedurine
Literature
Randall M,et al.Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug ToxicityJ Forensic Sci6041101-11032015
Minkler PE,et al.Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLMol Genet Metab1204363-3692017
Lang TFAdult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)J Inherit Metab Dis326675-6832009