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Summary
HYPOMAGNESEMIA 3, RENAL HOMG3
MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF
248250
OMIM = Online Medalian Inheritance of Men
31043
3q28
  • magnesium
rare
autosomal recessive
mutation in the claudin-16 gene
symptoms
behavior, hyperactive, restless
chorioretinitis
corneal deposits
diarrhea
edema
feeding difficulties, poor feeding
hearing defect, deafness
hematuria
hyperopia
hypotonia
infections (urinary tract)
irritability
muscle weakness
nephrocalcinosis
nystagmus
onset, infancy
onset, neonatal
opisthotonus
pain, abdominal
polydipsia (increased drinking)
polyuria
renal failure, acute/chronic
seizures
strabismus
stridor
tetany
tremor or twitching
urolithiasis, kidney stones
laboratory finding
Magnesium0.150.300.701.00mmol/lserum
Calcium1.201.602.102.65mmol/lserum
Phosphorus, inorganic 1.602.60increasedserum
Albumin 25.0034.00decreasedplasma
Calcium0.000.00 increasedurine
Uric acid increasedserum
Magnesium increasedurine
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Cromby CHManning NJ, Pollitt RJ, Powell S, Bennett MJ6-Methyluracil excretion in 2-Methylacetoacetyl-CoA Thiolase Deficiency and in 2 Children with Inexplained Recurrent KetoacidemiaJ Inherit Metab Dis17081-841994
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Valle Feijoo ML,et al.Abdominal pain and syndrome of inappropriate antidiuretic hormone secretion as clinical presentation of acute intermittent porphyriaRev Clin Esp2156349-3512015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Brusilow SWHorwich ALUrea cycle enzymesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101187-12321995
Kelley RIQuantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometryTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York014205-2481991
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996