Inborn errors of metabolism
An inherited problem with burning fat. The cells cannot take in carnitine and cannot turn fats into energy. The heart, muscles and blood sugar can be affected.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: French, English). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
Carnitine is a natural substance that we get mostly from food. The cells use it to burn fats. In this disease, the gateway that carries carnitine into the cell does not work. Fats cannot be turned into energy and can build up in the liver, heart and muscles.
Symptoms usually begin in infancy or early childhood. Severity varies greatly from person to person; some people have no symptoms at all.
In many countries, it can be found through newborn screening by a low carnitine level. The carnitine level in the blood is very low. The diagnosis is confirmed with a genetic test.
The main treatment is replacing the missing carnitine by mouth every day. It is very effective if started before the organs are damaged. Eating often and avoiding long periods without food prevents drops in blood sugar. If the heart is affected, a heart doctor also follows the person. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are usually carriers who show no symptoms. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. When relatives marry, the chance that two carriers have children together is higher. Genetic counselling guides the family.
Source: MedlinePlus Genetics: Primary carnitine deficiency · NORD: Systemic Primary Carnitine Deficiency
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
At Istanbul Cerrahpaşa, 12 patients from eight families were studied.
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
EUNew treatments and approvals
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
EuropeResearch and clinical trials
A total of 58 patients from 34 centers in seven European countries were followed.
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:158
No separate ICD-11 code; WHO classifies this disease under: 5C52.00
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.