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. 2020 Summer;14(3):19–32.

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