Multiple carboxylase deficiency
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
| Multiple carboxylase deficiency | |
|---|---|
| Specialty | Medical genetics, endocrinology  |
The deficiency can be in biotinidase or holocarboxylase synthetase.[1]
These conditions respond to biotin.[2]
Forms include:
- 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.
References
- "Multiple Carboxylase Deficiency". Archived from the original on 2008-08-28.
- "Definition: multiple carboxylase deficiency from Online Medical Dictionary".
External links
| Classification | |
|---|---|
| External resources |
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.