2 Menkes disease is diagnosed on the basis of history, physical findings and lab investigations including copper and ceruloplasmin
level as well as hair shaft microscopy.
Keywords: Wilson's; Hepatolenticular degeneration; Copper; Cerebellar; Hepatic; Kayser fleisher rings; ATP7B; Ceruloplasmin
copper binds to albumin, rather than ceruloplasmin
Results Reference Baseline investigations range Blood test Full blood count Normal Liver and renal function test Normal Thyroid function Normal Calcium (adjusted) and phosphate Normal Ceruloplasmin
and serum copper Normal Urine analysis Urine toxicology Negative Imaging studies Computed tomography of brain Normal Magnetic resonance imaging of brain Normal Electroencephalography (during Normal the acute episode) Other investigations Plasma ammonia ([micro]mol/L) 14.
Significant inhibition of serum levels of ceruloplasmin
and lysozyme were observed in mice fed with higher doses (40 and 100 mg/kg) of phyllanthin.
published a study demonstrating that the observed method differences between ceruloplasmin
assays were a result of the noncommutability of the certified reference material that was used by the manufacturers (ERM-DA470) (12).
It was stated by the authors that the rise in serum copper is possibly due to increase in serum cuproenzyme, ceruloplasmin
consequent to decreased catabolism of this enzyme in cancer patients.
3+]) by the ferroxidase activity of ceruloplasmin
(Cp) and /or spontaneous oxidization and then bind to transferrin and to be acquired by the cells.
Hepatitis B and C screening were also negative, iron status was normal, and copper and ceruloplasmin
levels were normal.
Investigations for hereditary and autoimmune diseases including serum ceruloplasmin
level, serum ferritin, serum transferrin saturation, anti-mitochondrial antibodies were within normal range.
The diagnosis is based on laboratory findings including reduced serum ceruloplasmin
level in association with increased 24-hour urine copper, serum free copper and hepatic tissue copper (2, 5).
Currently known endogenous antioxidants include superoxide dismutase (SOD), catalase, glutathione peroxidase, glutathione reductase, peroxiredoxin, thioredoxin reductase, glutathione, flavonoids, bilirubin, uric acid, melatonin, thiols, reduced coenzyme Q, alpha-lipoic acid, endogenous organic selenium, and the metal-binding proteins transferrin, ferritin, lactoferrin, ceruloplasmin
, and albumin.