Haemochromatosis neonatal

Acute liver failure/metabolic crisis Galactosaemia Neonatal haemochromatosis Tyrosinaemia Urea cycle disorders Fatty acid oxidation defects... 

Wilson s disease, haemochromatosis, galactosaemia, glycogenosis type IV, ai-antitrypsin deficiency, tyrosin-aemia, idiopathic neonatal hepatitis, Niemann-Pick disease, Gaucher s disease, fructose intolerance, defective urea cycle, etc. 

There is no test currently available that can prove that a patient has reduced activity A -3-oxosteroid 5/ -reductase as a result of a defect in the gene coding for this enzyme and it is known that reduced activity of the enzyme (resulting in excretion of 3-oxo-A bile acids) can occur as a non-specific consequence of severe liver damage in infancy/ childhood. Thus, at present the features of 5j -reductase deficiency cannot be accurately defined. Nor can its relationship to other recessive disorders causing severe liver damage (e.g. neonatal haemochromatosis). 

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