@entity51987 ,6-bisphosphatase (FBPase), an enzyme involved in gluconeogenesis, catalyzes the hydrolysis of @entity4567 to @entity16117 and inorganic @entity4613 . @entity65484 is an @entity74 , characterized by episodic attacks of @entity4053 , @entity1270 , and @entity8193 during @entity4053 . In general, urinary organic acid analysis using gas chromatography-mass spectrometry (GC/ @entity15 ) is very useful for the diagnosis of @entity65484 , because the appearance of @entity653 or @entity7685 in the urine is characteristic of this disease. Here, we report a case of @entity65484 in a @entity1 with a history of several severe @entity8193 events, both as a neonate and after the age of 12 months. The @entity1 was identified as a compound heterozygote with two mutations in the @entity24154 gene: @entity68997 ( @entity68998 ) and @entity68999 (p.Ser321fs). The @entity68997 is a newly identified pathogenic mutation. An abnormal level of @entity7685 was not detected in the conventional urinary organic acid analysis using GC/ @entity15 after solvent extraction. This method, which is a widely used diagnostic standard, could not detect increased levels of @entity653 or @entity7685 in the @entity1 's urine, which was sampled during the episode. However, @entity653 and @entity7685 were detected in the same sample, when it was analyzed using GC/ @entity15 with the urease pretreatment non-extraction method. @entity1 with @entity65484 have good glycemic control after correct treatment. Therefore, accurate and early diagnosis is essential for a good prognosis. Accordingly, when a @entity1 presents with @entity4053 and @entity8193 , it is important to select the appropriate method of urinalysis for organic acids by GC/ @entity15 .

Pitfall in the Diagnosis of XXXX ,6-Bisphosphatase Deficiency: Difficulty in Detecting @entity7685 with Solvent Extraction in Urinary GC/ @entity15 Analysis.

@entity1 :: ('9606', 'Species') :: ['girl', 'Patients', 'patient'] @entity65484 :: ('MESH:D015319', 'Disease') :: ['FBPase deficiency'] @entity51987 :: ('MESH:D005633', 'Disease') :: ['Fructose-1'] @entity4613 :: ('D010710', 'Chemical') :: ['phosphate'] @entity24154 :: ('2203', 'Gene') :: ['FBPase 1'] @entity16117 :: ('MESH:C027618', 'Chemical') :: ['fructose-6-phosphate'] @entity653 :: ('MESH:D005990', 'Chemical') :: ['glycerol'] @entity4053 :: ('MESH:D007003', 'Disease') :: ['hypoglycemia', 'fasting'] @entity8193 :: ('MESH:D000140', 'Disease') :: ['lactic acidosis'] @entity4567 :: ('MESH:C029063', 'Chemical') :: ['fructose-1,6-bisphosphate'] @entity68999 :: ('c|INS|960_961|G', 'DNAMutation') :: ['c.960_961insG'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive inherited disorder'] @entity1270 :: ('MESH:D007662', 'Disease') :: ['ketosis'] @entity7685 :: ('MESH:C029620', 'Chemical') :: ['glycerol-3-phosphate'] @entity68997 :: ('c|SUB|G|841|A', 'DNAMutation') :: ['c.841G>A'] @entity68998 :: ('p|SUB|E|281|K', 'ProteinMutation') :: ['p.Glu281Lys'] @entity15 :: ('MESH:D009103', 'Disease') :: ['MS']
@entity51987 :: (MESH:D005633,Disease) :: ['Fructose-1']
