Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.16.3.1 (ceruloplasmin)
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A case of copper deficiency associated with hypocalcemia, radiological features of rickets and hyperparathyroidism is described in a small-for-date infant (gestational age 39 weeks, B.W 1 240 g). Neonatal serum copper (Cu) levels were found between 223 and 138 mumol/l. She was given daily 2 400 U of vitamin D2 and a load dose of 80 000 IU at the age of 55 days. At the age of 79 days, X-rays of the legs and wrist showed spread, cupped and frayed metaphyses. Serum Ca was 1.35 mmol/l, P = 0.99 mmol/l with high alkaline phosphatases (A.P.) 590 IU/ml. But plasma level of 25 hydroxycholecalciferol (25-OH-CC) was normal = 10.8 ng/ml. Serum Cu was low = 3.14 mumol/l and serum immunoreactive parathormone (iPTH) level was elevated: 520 mulEq/ml (N less than or equal to 100). Administration of vitamin D2 (15 mg) induced an immediate normalization of serum Ca, normal serum iPTH (68 mulEq/ml) in one month, normal X-rays in two months and normal A.P. in four months. Serum Cu and ceruloplasmin levels increased slowly without any supplementation to subnormal levels at the age of eight months (14.9 and 1.65 mumol/l. Serum Cu concentrations were found to be normal (16.0--33.7 mumol/l) in five children with hypocalcemic rickets. These results suggest a role of Cu deficiency in the occurrence of this transient vitamin D-resistant rickets.
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PMID:Copper deficiency and hypocalcemic rickets in a small-for-date infant. 65 8