Overview
Genetic primary hypomagnesemia with normocalciuria is a rare inherited condition where the body cannot properly maintain normal levels of magnesium in the blood. The term 'OBSOLETE' in the disease name means that this classification has been retired or merged into other, more specific diagnostic categories as medical understanding has improved. The condition falls under a broader group of inherited magnesium-wasting disorders. In this condition, the kidneys lose too much magnesium into the urine, leading to chronically low magnesium levels in the blood (hypomagnesemia), while calcium levels in the urine remain normal (normocalciuria). This distinction from conditions that also cause abnormal calcium in the urine is important for diagnosis. Low magnesium can affect many body systems, particularly muscles and nerves. Patients may experience muscle cramps, tremors, weakness, fatigue, numbness or tingling, and in severe cases, seizures or abnormal heart rhythms. Treatment typically involves magnesium supplementation, either by mouth or intravenously in acute situations. Because this Orphanet entry is now obsolete, patients previously classified under this code may now be reclassified under more specific genetic diagnoses such as familial hypomagnesemia with secondary hypocalcemia, isolated renal magnesium wasting, or other related channelopathies. Patients should work with a geneticist to determine their precise genetic diagnosis for the most accurate management plan.
Key symptoms:
Muscle cramps and spasmsTremors or shakingMuscle weaknessFatigue and tirednessNumbness or tingling in hands and feetSeizuresIrregular heartbeat or heart palpitationsIrritability or mood changesPoor appetiteNausea or vomitingDifficulty concentrating
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Genetic primary hypomagnesemia with normocalciuria.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Genetic primary hypomagnesemia with normocalciuria.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact genetic cause of my magnesium problem, and has the diagnosis been updated from the obsolete classification?,What magnesium supplement type and dose is best for me, and how can I manage side effects like diarrhea?,How often should my blood and urine electrolyte levels be checked?,What warning signs should prompt me to seek emergency care?,Are there any medications I should avoid because they could lower my magnesium further?,Should my family members be tested for this condition?,Are there any clinical trials or new treatments being studied for my specific genetic type?
Common questions about OBSOLETE: Genetic primary hypomagnesemia with normocalciuria
What is OBSOLETE: Genetic primary hypomagnesemia with normocalciuria?
Genetic primary hypomagnesemia with normocalciuria is a rare inherited condition where the body cannot properly maintain normal levels of magnesium in the blood. The term 'OBSOLETE' in the disease name means that this classification has been retired or merged into other, more specific diagnostic categories as medical understanding has improved. The condition falls under a broader group of inherited magnesium-wasting disorders. In this condition, the kidneys lose too much magnesium into the urine, leading to chronically low magnesium levels in the blood (hypomagnesemia), while calcium levels i