Table 3.
Neurometabolic diseases with alopecia and global developmental delay
| Neurometabolic disease | Diagnostic approach |
|---|---|
| Hypothyroidism | T4, TSH |
| Vit D dependent rickets and receptor abnormalities | 25-OH-Vit D and 1, 25(OH)2 vit D |
| Biotinidase deficiency | Biotinidase activity |
| Multiple carboxylase deficiency | Biotinidase, Acetyl-CoA carboxylase, Pyruvate carboxylase, MethylcrotonylCo A Carboxylase, Propionyl Co A Carboxylase |