Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.5.1.12 (biotinidase)
 392 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nutritional approaches are available for the management of several different classes of inborn metabolism errors. In phenylketonuria (PKU), phenylalanine is not properly metabolized; and its accumulation leads to neurologic dysfunction and metal retardation. Altering the diet to limit phenylalanine intake led to remarkable improvement in children with PKU. It was later found that instituting dietary therapy immediately after identification of the disorder in newborns prevented mental retardation. Throughout the 1960s nutritional therapies were found for other inborn disorders, including galactosemia, maple syrup urine disease, and homocystinuria. For the group of disorders associated with defects in the urea cycle, leading to profound hyperammonemia, therapy based on the concept of waste nitrogen excretion (i.e., by increasing excretion of urea cycle intermediates in the urine, nitrogen that would otherwise recycle as ammonia can be eliminated) dramatically produced better control of hyperammonemia and its consequences. Some inborn errors of metabolism respond to vitamin therapy. Biotin-related multiple carboxylase synthetase deficiency can be produced by either of two enzyme defects--holocarboxylase synthetase deficiency or biotinidase deficiency. Both are treatable with biotin supplementation. The symptoms of multiple carboxylase deficiency can also occur after intestinal resection or ingestion of raw eggs. Multiple carboxylase deficiency has been treated successfully in utero by giving the mother biotin supplements. Peroxisomal disorders may respond to dietary management. Liver disease in hereditary tyrosinemia may be accentuated by hypermethioninemia and treated by controlling the blood methionine level. Glycogen storage disease Type I, which causes hypoglycemia, can be controlled by oral administration of cornstarch.
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PMID:Nutritional therapy for selected inborn errors of metabolism. 268 28

A 60-kDa photoprotein was selectively extracted from squid photogenic organ with 0.6 M KCl solution at pH 6 as luminescence-active forms. The photoprotein with fluorescence chromophore was eluted from size-exclusion HPLC mainly as oligomeric forms (about 200 kDa or more) with a trace amount of monomeric form of about 60 kDa. A limited tryptic digestion of the KCl-extract induced the cleavage into a 40-kDa fragment and a 16-kDa N-terminal fragment and the conversion to the monomeric form which still retained luminescence activity. Under UV light the 60-kDa protein and its 40-kDa fragment emitted fluorescence. Immunoblot analysis using specific antibody showed specific expression of the 60-kDa protein in the photogenic organ. Amino acid sequences of the 60-kDa photoprotein, its 40- and 16-kDa fragments, and six peptides from the Lys-C digest revealed no sequence similarity to known photoproteins but significant similarity to the carbon-nitrogen hydrolase domain found in mammalian biotinidase and vanin (pantetheinase).
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PMID:A novel photoprotein from oceanic squid (Symplectoteuthis oualaniensis) with sequence similarity to mammalian carbon-nitrogen hydrolase domains. 1205 53