Table 1.
Biochemical investigations in metabolic diseases affecting skin, hair and nails.
Basic tests | Profiles | Special tests |
---|---|---|
| ||
Blood count | Amino acids (P, U) | Copper (S, U) |
ASAT/ALAT (P) | Organic acids (U) | Transferrin (S) |
CK (P) | Acylcarnitines (DBS, P) | Iron (S) |
ALP (P) | Sialotransferins (S) | Ferritin (S) |
Lactate (P) | Sterols (P) | Carnitine (P) |
Glucose (P) | VLCFA (P) | Glycogen (L) |
Ammonia (B) | Lipid panel (S) | Lysosomal Enzymes (S) |
Coagulation factors | Monogenic (CSF) | Neopterin (CSF) |
Porphyrins (U) | Vitamins (S) | |
Interferon-alpha (CSF) |