Zellweger syndrome

 Zellweger syndrome is also called cerebrohepatorenal syndrome, a peroxisomal biogenesis disorder, or Zellweger spectrum (English: Zellweger syndrome, Zellweger spectrum disorder). It is a congenital (autosomal recessive) progressive encephalopathy, first described by Hans Zellweger in 1964. 

Diagnosis:
The basis is a mutation in any of 12 genes (see peroxin-1 (PEX1), peroxin-12 (PEX12)) that regulate the proper function of peroxisomal enzymes. As a result of this mutation, there is reduced function or a complete deficiency of peroxisomes in the cells of the brain, liver, and kidneys. The function of peroxisomes is to catalyze the conversion of peroxide into oxygen and water using the enzyme catalase. This enables the breakdown of very long-chain fatty acids and the detoxification of harmful substances.

It is most common in Canada (1 in 12,000) and least common in Japan (1 in 500,000). Children typically die around the age of 1 year.

Treatment:
It is a congenital disorder, so it cannot be prevented. Currently, there is no cure. Only symptomatic and supportive treatment is used. 

• kraniofaciálna dysmorfioa (vysoké čelo, hypoplastický supraorbitálny oblúk, sploštený nos, malá Mandibula, veľká predná fontanela)
• porucha zraku (glaukóm, katarakta, nystagmus)
• porucha sluchu
• mentálna retardácia
• hepatomegália spojená so zníženou funkciou pečene a následnou žltačkou
• postihnutia funkcie obličiek na základe cystickej dysplázie
• kŕče
• celková svalová hypotónia znemožňujúce mobilitu a príjem potravy
• krvácanie
• zvýšená hladina medi a železa v krvi