Visit Metagene.de!
Summary
GITELMAN SYNDROME GTLMNS
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
263800
OMIM = Online Medalian Inheritance of Men
358
16q13
rare
autosomal recessive
symptoms
hypokalemia
metabolic alkalosis
muscle cramps
muscle weakness
onset, childhood
pain, abdominal
paresthesia
polydipsia (increased drinking)
polyuria
seizures
tetany
vomiting
laboratory finding
Renin activity (PRA) or renin increasedplasma
Potassium decreasedserum
Magnesium decreasedserum
Chloride normal-increasedserum
Magnesium increasedurine
Calcium decreasedurine
Literature
Coci EG,et al.Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsyMol Cell Probes32018-232017
Xue J,et al.Novel phenotypes of pyridox(am)ine-5-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patientsMetab Brain Dis3241081-10872017
Jaeger B,et al.Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutationMol Genet Metab Rep6060-632016
Yuzyuk T,et al.Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsyMol Genet Metab1183167-1722016