Table 2.
Copper-Dependent Enzymes and Phenotypes Associated in Menkes Disease
| Enzyme | Gene | Compartment | Biological Activity | Symptom |
|---|---|---|---|---|
| Cytochrome c oxidase | Varios Genes | Mitochondria | Cellular respiration | CNS degeneration? |
| See CORUM Complex #6442 | Ataxia? | |||
| Superoxide dismutase | SOD1 | Mitochondria | Free radical scavenging | CNS degeneration? |
| Tyrosinase | TYR | Lysosome-related organelles | Pigment formation | Hypopigmentation |
| Dopamine β-hydroxylase | DBH | Large dense core secretory vesicles | Catecholamine production | Ataxia? |
| Hypothermia | ||||
| Hypotension | ||||
| Peptidylglycine alpha-amidating monooxygenase | PAM | Large dense core secretory vesicles | Activation of peptide hormones | Wide spread effects, vascular and pancreas defects |
| Lysyl oxidase | LOX | Secreted | Collagen and elastin cross-linking | Premature rapture of fetal membranes |
| Cephalohematoma | ||||
| Abnormal facies | ||||
| High-arched palate | ||||
| Emphysema | ||||
| Hernias | ||||
| Bladder diverticula | ||||
| Arterial aneurysms | ||||
| Loose skin and joints | ||||
| Osteoporosis | ||||
| Petechial hemorrhage | ||||
| Poor wound healing | ||||
| CNS degeneration? | ||||
| Sulfhydryl oxidase | Possibly QSOX1 and 2 | Golgi and secreted | Cross-linking of keratin | Abnormal hair |
| Dry skin |
Adapted from (Harris, 2013, Tumer and Moller, 2010, Zlatic et al., 2015).