Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.5.1.12 (
biotinidase
)
392
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
There are two distinct forms of multiple carboxylase deficiency. A neonatal onset form is due to deficiency of
holocarboxylase-synthetase
. A later onset form in which neurological abnormalities are seen as well as those of the skin and hair is due to
biotinidase
deficiency. It is the purpose of this report to describe a patient with
biotinidase
deficiency who presents bilateral optic atrophy. The dosage of
biotinidase
enzyme in the patient's serum and in other members of his family confirms the autosomal recessive transmission of this condition.
...
PMID:Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. 365 39
The Health Council of the Netherlands has published an advisory report on neonatal screening in view of developments in diagnostics, therapy and the prevalence of neonatal diseases. Currently it involves screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia. Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders:
biotinidase
deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency,
holocarboxylase-synthetase
deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. A better detection method for cystic fibrosis must be developed before it is included in screening to restrict the number of sweat-test referrals of unaffected newborns. The council recommends providing information on neonatal screening during pregnancy and gives special attention to the possibility of detecting carriership in the parents.
...
PMID:[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. 1639 64
