Incidence of Menkes disease

Abstract

We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976-87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298,000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254,000 live-born babies. This incidence, which is 2-4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 x 10(-6), based on the number of isolated Menkes cases born during the time period 1976-87 and the total number of newborn males during this time.

Menkes disease

“…The incidence of MD is calculated as 1 in 300 000 based on observations from a large population in five European countries, 23,24 and 1 in 360 000 in Japan. 25 In Australia the incidence is reported to be much higher (1 in 50 000-100 000), 26 but this might be due to a founder effect.…”

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

“…The incidence of the disease is estimated to range between 1:40 000 and 1:350 000 10 – 12 . Clinical features of MD are a direct consequence of dysfunction of several copper-dependent enzymes (cuproenzymes; table 1), secondary to an inability to load these enzymes with copper.…”

Menke′s kinky hair disease with visual pathway defect: An association or coincidence?

“…The incidence has been estimated at 1 in 114,000-1 in 250,000 live births. [3] The patients with this disease are generally preterm or term delivered babies with nonspecific findings like large cephalhematomas, hypothermia, hypoglycemia, and jaundice in perinatal period. There is development of progressive hypotonia, loss of previously obtained developmental milestones, seizures, myoclonic jerks, failure to thrive, poor weight gain, loose skin, pectus excavatum, urinary bladder diverticula and the appearance of coarse short steel wool like hair with coarse facial features.…”