Table 2.
Cuproenzymes and Symptoms Due to Decreased Activity (Symptoms of Menkes Disease)
| Enzyme (Localization in Cells or Characteristics) | Function | Symptoms |
|---|---|---|
| Cytochrome C oxidase (mitochondria) | Electron transport in mitochondrial respiratory chain, energy production | Brain damage, hypothermia, muscle hypotonia |
| Lysyl oxidase (secretory enzyme) | Crosslinking of collagen and elastin | Arterial abnormalities, subdural hemorrhage, bladder diverticula, skin and joint laxity, osteoporosis, bone fracture, hernias |
| Dopamine ß-hydroxylase (secretory enzyme) | Norepinephrin production from dopamine | Hypotension, hypothermia, diarrhea [121] * |
| Tyrosinase (cytosol) | Melanin formation | Hypopigmentation |
| Sulfhydryl oxidase (cytosol) | Keratin cross-linking | Abnormal hair |
| Cu/Zn superoxide dismutase (cytosol) | Oxidant defense: superoxide radical detoxication | CNS degeneration [121] |
| Peptidyl α-amidating monooxygenase (secretory enzyme [122]) | Neuropeptide bioactivation | Brain damage |
| Ceruloplasmin (secretory enzyme) | Ferroxidase, Cu transport | Anemia |
| Hephaestin** (membrane bound enzyme [123]) | Ferroxidase in enterocytes, involved in iron absorption | Anemia** |
| Angiogenin** (secretory enzyme [122]) | Induction of blood vessel formation, antimicrobial host defense [125] | Arterial abnormalities, enteric infections [126] ** |
| Amine oxidases** | Oxidation of primary amines, cancer growth inhibition and progression [127] | Carcinogenesis [127] ** |
| Blood clotting factors V, VIII** | Blood coagulation system [128] | Blood clotting [128] ** |
*
Diarrhea is often observed in patients with MD, but the relation with dopamine ß-hydroxylase is unclear.
**
The relation with copper metabolism and MD is unclear.