Multiple carboxylase deficiency
Nowadays, Multiple carboxylase deficiency is a topic that arouses the interest of many people around the world. Over time, Multiple carboxylase deficiency has acquired great relevance in various fields, from politics to science, including culture and society in general. Its impact has been so significant that it has generated debates, controversies and deep reflections among experts and ordinary citizens alike. In this article, we will analyze the role that Multiple carboxylase deficiency currently plays and explore its implications in different contexts.
| Multiple carboxylase deficiency | |
|---|---|
| Specialty | Medical genetics, endocrinology  |
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
The deficiency can be in biotinidase or holocarboxylase synthetase.[1]
These conditions respond to biotin.[2]
Types
Forms include:[citation needed]
- Holocarboxylase synthetase deficiency - neonatal;
- Biotinidase deficiency - late onset;
If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in the blood.[citation needed]
References
- ^ "Multiple Carboxylase Deficiency". Archived from the original on 2008-08-28.
- ^ "Definition: multiple carboxylase deficiency from Online Medical Dictionary".
External links
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