Inborn errors of metabolism
An inherited problem with burning fat. The body cannot turn certain fats into energy. Blood sugar drops during fasting; the heart, liver, muscles and eyes 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). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
The body cannot burn fats called long-chain fats to make energy. These fats are found in milk and some oils. During fasting the body depends on these fats, so energy runs low. Fats that cannot be burned build up and can damage the liver, heart, muscles and eyes.
Symptoms usually begin in infancy or early childhood. Fasting, illness or fever can trigger symptoms.
In many countries, it can be found through newborn heel-prick screening. A screening result alone does not make the diagnosis. Blood and urine are checked for fat breakdown products. The diagnosis is confirmed with a genetic test.
The basis of care is a special diet. Long-chain fats are reduced, and a special fat that the body can burn is added. The child is fed often and does not go without food for long. The doctor may recommend some additional nutritional supplements. On sick days, quick sugar support may be needed. The heart, eyes and development are checked regularly. A metabolic doctor and a dietitian work together. 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 healthy carriers. 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 and future pregnancies.
Source: MedlinePlus Genetics: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency · Baby's First Test: Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency · NORD: Long chain 3-hydroxyacyl-CoA dehydrogenase 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.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
USAResearch and clinical trials
In the USA, the diets of 40 people with LCHAD deficiency were assessed two years apart.
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:5
No separate ICD-11 code; WHO classifies this disease under: 5C52.01
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.