FAOD diagnosis - Mama Jette reports her story
My son Max is 12 years old and suffers from a very rare metabolic disease called MTP deficiency. Max was born 4 weeks premature. On the night of his birth, he was already restless and suffered from hypoglycemia (low blood sugar). Newborn screening showed abnormalities...
These dysfunctions in the oxidation of long fatty acid chains were detected in newborn screening from 2005. Max was born four weeks earlier than expected. Already on the night of his birth he became restless and suffered from hypoglycemia. Neonatal screening revealed abnormalities, and after further testing, a rare genetic defect emerged! A dysfunction in fatty acid metabolism! We were shocked, helpless and initially completely overwhelmed.... Max was immediately transferred to neonatology. Since he was unable to drink on his own, he was given nutrition through a nasogastric tube. Unfortunately, he could not take breast milk, as a low-fat diet was an integral part of the treatment, and still is today. We were shocked!
Max finally returns home
Because in 2011 the disease was not as well known as it is today and there was little information available, we were very afraid. After initial discussions with the metabolism clinic and the dietary counselor, we looked for information on the Internet (as much as was available). Max was hospitalized for 3 weeks. He finally came home!!! Now we had to deal with "bottled meals" with a special milk. This was a low-fat liquid feed with carbohydrates, vitamins, low LCT and high MCT content, and essential fatty acids. Every 3 hours, also at night--then every 4 hours, also at night. By the fourth year of age, we were able to extend the night fasting period to 8 hours.
The diet includes strictly low-fat, carbohydrate-rich, MCT-modified foods and dishes with added essential fatty acids. Fasting times must be observed, and in case of illness, gastrointestinal infections and excessive physical exertion, there is a risk of metabolic decompensation.
Diagnosis LCHAD - Our story
The pregnancy with my second child went without any complications, apart from the fact that our second child also seemed to be quite big in terms of length and weight[...] The birth was completely uncomplicated and everything went well for our little family. The only strange thing was a situation that we only realized afterwards as the first crisis...
Cooking tips with MCT fats
The most important information summarized briefly:
- Half a teaspoon of MCT oil is approximately 1 g/ml.
- One teaspoon of MCT oil is approximately 3 g/ml.
- One tablespoon of MCT oil is approximately 6 g/ml.
- MCT margarine is ideal for spreading on bread as well as for sautéing and baking.
- MCT oil can be used for salad preparation and for gentle frying at low temperatures (approximately 150°C).
- Do not keep MCT fats warm for too long, heat them too hot, or reheat them (in the microwave) as this could result in a bitter taste.
Principles of the disturbances of energy production from long-chain fatty acids
The term "metabolism" encompasses all processes necessary for building the body, maintaining bodily functions, and obtaining energy. To fulfill these tasks, the food ingested or reserves stored in the body are processed in many carefully coordinated steps. These steps are facilitated by enzymes and transporters.