bola/phosphatase

A 78 year-old lady presented with abdominal swelling and fatigue. She was anaemic with mild hypoalbuminaemia, and had a normal alkaline phosphatase. Computed tomography showed hepatosplenomegaly and mild ascites. Anti mitochondrial antibodies were strongly positive, as were anti nuclear antibodies,

Glucose 6 phosphatase catalytic subunit-3 (G6PC3) deficiency is a heterogenous disorder characterized by severe congenital neutropenia and a variety of extrahematopoietic manifestations. Inflammatory bowel disease like colitis is an uncommon complication of G6PC3 deficiency, described only in

Elevated serum alkaline phosphatase (ALP) is a screening marker for the diagnosis of vitamin D deficiency, which may fail to be diagnosed if serum ALP is not elevated. Here, we describe a case of vitamin D deficiency without elevation of serum ALP. A 1-year-old Japanese girl was referred to our

We report an 87-year-old woman who was admitted to our hospital due to anemia and extremely elevated serum alkaline phosphatase (ALP) levels. We diagnosed advanced gastric cancer with disseminated carcinomatosis of the bone marrow and multiple bone metastasis. She was immediately treated with

Background: The normal serum concentration of alkaline phosphatase (ALP) in adults over the age of 18 ranges from 37 to 116 U/L, while in pregnant women levels of up to twice that upper limit can still be normal. There have been very few reports of extreme

OBJECTIVE The case report details an unusual presentation of a teenage patient with hypophosphatasia. METHODS A 17 year-old female patient presented to endocrinology for the evaluation of fatigue and possible adrenal insufficiency. In the course of her clinical evaluation she was noted to have a low

A 34-year-old woman was referred to the hepatology clinic for evaluation of an increased serum alkaline phosphatase (ALP) level. She was gravida 5 and in her 38th week of gestation. Her obstetric history was significant for 2 uncomplicated spontaneous term vaginal deliveries resulting in live births

Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in the gene for tissue nonspecific isoenzyme of alkaline phosphatase (ALP) that results in low levels of ALP. The clinical presentation of HPP is variable and in adults can easily be misdiagnosed as other

BACKGROUND A 32-year-old lady of Asian descent presented with pain and severe stiffness of the back and hips progressively worsening over several years. She was diabetic but had no past medical history of rickets or renal disease. On examination she was of short stature with marked thoracic kyphosis

A 57-year-old female presented 17 days after treatment with radioactive iodine (RAI) for difficult-to-control hyperthyroidism. She was febrile, had a sinus tachycardia, and was clinically thyrotoxic. Her thyroid function tests showed a suppressed TSH <0.02 mU/l, with free thyroxine (FT4) >75 pmol/l

A 12-week pregnant, 33-year-old African American female, presented with jaundice and change in urine colour. Liver function tests revealed raised transamines and normal alkaline phosphatase. She was started on methyldopa 6 weeks prior to presentation. After initial negative investigations including

A 46-year-old woman presented with three episodes of presyncope in the previous two days. Electrocardiogram (ECG) showed sinus rhythm, relatively short QT interval (QTc of 340 msec) and prominent J-waves in the inferior leads. Biochemical evaluation revealed serum calcium of 17.4 mg/dL, phosphorus

A 58-year old Caucasian female has compensated hepatitis C related cirrhosis. Her surveillance ultrasound showed hypodense liver nodules and subsequent triple phase CT scan showed five tumor nodules with diameters ranging from 3-5cms involving both hepatic lobes. The nodules showed characteristic

Malnutrition associated vitamin D deficiency contributes to the calcium loss from bone and results in osteoporosis and osteomalacia at final stage. Osteomalacia is characterized with softening of bone secondary to defective bone mineralization. Here, we report a case of possible osteomalacia caused

A 61-year old female patient who was referred to the endocrine clinic for evaluation of an elevated alkaline phosphatase. She was originally referred to gastroenterology (GI), however no GI causes of elevated alkaline phosphatase was found. Upon fractionation, it was noted that she had elevation in