Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man aged 42 years, presented with 3 years history of paraesthesias in hands and feet and muscle cramps off and on, progressing to severe carpopedal spasm, a couple of times, relieved by intravenous calcium gluconate at the emergency reception of the hospital. On examination, Trousseau's sign and Chvostek's sign were positive. Thyroid gland was not enlarged. Right eye showed mature cataract. Total serum calcium, corrected serum calcium, serum phosphate, ionized serum calcium, serum alkaline phosphatase, serum parathormone (PTH) level were deranged favouring hypoparathyroidism. He was diagnosed to be suffering from isolated primary hypoparathyroidism and put on alfacalcidol and oral calcium carbonate, with which he is asymptomatic now.
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PMID:Severe isolated primary hypoparathyroidism in an adult. 2133 45

Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory findings in a VDDR-1A case and to report a novel homozygote truncating mutation NM_000785.3 c.403C>T (p.Q135*) in CYP27B1 which to our knowledge is the first described mutation in the Uzbek population. The patient was admitted with tetany at the age of 12 months. He was a healthy Uzbek boy until 9 months of age when he had a seizure due to hypocalcemia. Vitamin D treatment was given orally in Turkmenistan (no data available for dose and duration). The patient was the product of a consanguineous marriage. His brother had died with hypocalcemia and pneumonia. At physical examination, anthropometric measurements were within normal limits; he had caput quadratum, enlarged wrists, and carpopedal spasm. Blood calcium, phosphorus, alkaline phosphatase, and parathormone (PTH) levels were 5.9 mg/dL, 3.5 mg/dL, 987 IU/L, and 182.8 pg/mL (12-72), respectively. Radiological findings included cupping and fraying of the radial and ulnar metaphyses. Renal ultrasound revealed nephrocalcinosis (grade 1). Despite high serum PTH and 25-hydroxyvitamin D3 levels, 1,25-dihydroxyvitamin D3 level was low, suggesting a diagnosis of VDDR-1A. The patient was treated with calcium carbonate and calcitriol. DNA sequencing revealed a novel homozygous mutation of NM_000785.3 c.403C>T (p.Q135*) in CYP27B1. VDDR-1A is a rare disorder which needs to be considered even in countries where nutritional vitamin D deficiency is still common.
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PMID:A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population. 2735 39