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Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700; FBPase; E.C.3.1.3.11) is a very rare autosomal recessive disorder of gluconeogenesis with a frequency of 1–9 per 100,000, which is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis, apnea, hyperventilation, and ketosis (1, 2). Fructose intake, fasting, and febrile infectious disease are known to trigger these symptoms. Once the diagnosis is established, the prognosis of this disorder is excellent if simple measures are followed such as the prevention of hypoglycemia (2) and avoidance of the consumption of foods with fructose (2) and glycerol (3). FBPase deficiency can be definitively diagnosed by confirming mutations in FBP1, which encodes fructose-1,6-bisphosphatase-1. FBP1 consists of 7 exons, which span more than 31 kb at chromosome 9q22.2-q22.3 and encodes a 362 amino acid protein that is mainly expressed in the liver and kidney. Since the first identified mutations in 1995, at least 36 additional mutations resulting in FBPase deficiency, including those from the Japanese population (4), have been described in the genomic region spanned by FBP1. Excretion of glycerol and glycerol-3-phosphate in the urine may help to distinguish this disease from other metabolic acidosis diseases (5). Here, we report a patient with FBPase deficiency caused by novel compound heterozygous mutations in FBP1, who had normal urine glycerol-3-phosphate during an oral fructose tolerance test. Received: November 21, 2016 Accepted: April 26, 2017 Corresponding author: Yukihiro Hasegawa, MD, PhD, Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchu-shi, Tokyo 183-8561, Japan E-mail: yhaset@gmail.com

A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel <i>FBP1</i> mutation (p.Phe90Val)