Blood and immune system diseases
An inherited disease with attacks of fever that begin in infancy. The mild form is known as hyper-IgD syndrome, and the severe form as mevalonic aciduria.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Blood and immune system diseases” group.
A change in the MVK gene causes an enzyme called mevalonate kinase to work poorly. This enzyme plays a part in making cholesterol. The lack of the enzyme causes attacks of inflammation. The less enzyme there is, the more severe the disease.
Fever attacks usually last 3–6 days. During attacks, the following may be seen:
During attacks, mevalonic acid is found to be raised in the urine. A genetic test of the MVK gene confirms the diagnosis. Inflammation markers in the blood and urine tests are used for follow-up.
Anti-inflammatory medicines and cortisone can ease attacks. Biological medicines that suppress inflammation are also used. There is an approved biological treatment for this disease. Attacks may become less frequent with age. Children on treatment have blood and urine tests at least twice a year. The doctor who follows the disease decides which treatment is suitable.
Inheritance is recessive. The mother and father are usually healthy carriers. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. Recessive diseases may be more common when parents are related by blood. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Mevalonate kinase deficiency · PRINTO/PReS: Mevalonat Kinaz Eksikliği (MKD) (veya Hiper IgD Sendromu) · Orphanet: Mevalonate kinase deficiency (ORPHA:309025)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
For all rare diseases: Nadir Hastalıklar Federasyonu
Links checked on October 8, 2026.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
GlobalHealth policy
The International Pediatric Nephrology Association published its recommendations for diagnosing and treating atypical HUS in children.
GlobalResearch and clinical trials
Researchers re-examined the data from a large drug study.
TürkiyeResearch and clinical trials
A face-to-face survey was conducted with 104 PNH patients at 18 centers in Türkiye.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:309025
No separate ICD-11 code; WHO classifies this disease under: 5C52.10
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.