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...
The pregnancy with my second child went smoothly, except for the fact that our second child also seemed to be on the larger side in terms of length and weight. However, we were already accustomed to this from our firstborn. My obstetrician insisted I take the gestational diabetes test, which came back negative. Once that was clarified, I chose to have the final weeks of my pregnancy monitored exclusively by my midwife. Similar to my first child, my daughter was born at home. The birth was entirely uncomplicated, and everything went well for our little family.
In retrospect, we identified an unusual incident that marked our first crisis. A few hours after birth, Martha, as we lovingly named her, was in her cradle and began trembling. Upon bringing her to me and placing her on my breast, the trembling miraculously ceased. Throughout our initial night together, Martha displayed remarkable vigor, loudly and persistently demanding to be nestled at the breast. This marked the beginning of her spirited personality.
These early moments with Martha were both memorable and unique, setting the tone for the beautiful journey that lay ahead for our family.
From the beginning, we only directed as much attention to the genetic uniqueness as each situation required. Otherwise, we continued with our normal life as much as possible, partly influenced by the presence of our older sibling.
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...
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.