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| Disease found: | 18 Hydroxylase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal recessive disorder caused by a defect in biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). [more info] |
| Signs and Symptoms: | This enzymatic defect results in decreased aldosterone and salt-wasting. Ultimately electrolyte abnormalities can lead to nausea, vomiting, dehydration, low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected infants often experience failure to thrive, which means they do not gain weight and grow at the expected rate [more info] |
| Diagnosis: | Enzyme assy testing for aldosterone [more info] |
| Treatment: | Treated using fludrocortisone [more info] |
| Clinical Management: | Long term use of fludrocortisone [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One clinical study going on now, register here |