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Summary
HYPOMAGNESEMIA 6, RENAL HOMG6
613882
OMIM = Online Medalian Inheritance of Men
34527
10q24.32
rare
autosomal dominant
mutation in the CNNM2 gene
symptoms
headache (severe, recurrent or occipital, migraine)
muscle weakness
no clinical signs or symptoms
vertigo, dizziness
laboratory finding
Magnesium decreasedserum
Literature
An SJ,et al.Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures reviewKorean J Pediatr591S45-S482016
Chiplunkar,et al.Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiencyMetab Brain Dis324967-9702017
Cecatto C,et al.Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscleToxicol In Vitro3601-92016
Lang TFAdult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)J Inherit Metab Dis326675-6832009