Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder

Kamate, Mahesh; Jambagi, M.; Prashanth, G; Sonoli, Smita S

doi:10.1136/bcr-2013-201553

Cited by 8 publications

(17 citation statements)

References 10 publications

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“…FBPase defects block the conversion of substrates, such as amino acids, lactic acid, glycerol, and pyruvic acid, into glucose, resulting in hypoglycemia and the accumulation of gluconeogenic substrates. 3,6,7 Following exposure to triggering risk factors such as infection, long-time fasting, or a large fructose load, patients with FBPase deficiency present clinically with severe hypoglycemia, lactic acidosis, elevated liver enzymes and metabolic acidosis. 7,8 During infancy or early childhood, the patients are prone to experience acute episodes.…”

Section: Discussionmentioning

confidence: 99%

“…FBPase deficiency is an inborn error of metabolism characterized by an enzymatic block during the last steps of gluconeogenesis. FBPase defects block the conversion of substrates, such as amino acids, lactic acid, glycerol, and pyruvic acid, into glucose, resulting in hypoglycemia and the accumulation of gluconeogenic substrates . Following exposure to triggering risk factors such as infection, long‐time fasting, or a large fructose load, patients with FBPase deficiency present clinically with severe hypoglycemia, lactic acidosis, elevated liver enzymes and metabolic acidosis .…”

Section: Discussionmentioning

confidence: 99%

“…Although it is a treatable metabolic disease, it can be dangerous and even lethal if it is not treated properly and effectively during infancy or early childhood. An early definitive diagnosis, appropriate diet and effective treatment are critical factors for achieving a good prognosis . In this study, we reported a case of FBPase deficiency that presented with status epilepticus and hypoglycemia, and retrospectively analyzed the clinical manifestations and genetic changes associated with the disease.…”

Section: Introductionmentioning

confidence: 99%

“…FBPase is key regulatory enzyme during gluconeogenesis, which catalyzes the and effective treatment are critical factors for achieving a good prognosis. 3 In this study, we reported a case of FBPase deficiency that presented with status epilepticus and hypoglycemia, and retrospectively analyzed the clinical manifestations and genetic changes associated with the disease.…”

Section: Introductionmentioning

confidence: 99%

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Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation

Mei

Cheng

et al. 2019

Pediatric Investigation

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Introduction Fructose‐1,6‐bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. Case presentation We describe two brothers with FBPase deficiency. The proband developed s evere hypoglycemia and progressed to status epilepticus, and the brother showed slightly hypoglycemia with a good prognosis. Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1_333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose‐1,6‐bisphosphatase 1 gene in the two brothers, which were inherited from the father and the mother, respectively. Conclusion Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation

Mei

Cheng

et al. 2019

Pediatric Investigation

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“…[ 16 ] The only published case report from India also highlight a good long-term outcome with simple dietary interventions. [ 17 ]…”

Section: Discussionmentioning

confidence: 99%

Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child

Sharma

Kanwal

Chhapola

et al. 2018

Journal of Postgraduate Medicine

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Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Genetic analysis revealed a novel compound heterozygous mutation in FBP1 gene confirming the diagnosis of FBP1 deficiency. The patient was managed with treatment of acute episodes and preventive long-term dietary modifications. Long-term prognosis of FBP1 deficiency is excellent underlining the importance of early recognition of clinical signs, prompt diagnosis, and avoidance of fasting in this disease. FBP1 gene mutations have been described from various ethnic backgrounds, but there is limited data available from Indian population, hence the importance of this case.

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A novel variant of fructose‐1,6‐bisphosphatase gene identified in an adult with newly diagnosed hepatitis C

et al. 2022

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Hepatic fructose-1,6-bisphosphatase (FBPase) deficiency commonly presents with acute crises during infancy when glycogen stores are depleted. In these patients, dependence on glycogenolysis means that the duration of normoglycaemia is related to liver glycogen stores. Clinical hallmarks of FBPase deficiency include hypoglycaemia and lactic acidosis with or without ketosis. Patients commonly present with hyperventilation, vomiting, tachycardia, reduced consciousness and glucagon-resistant hypoglycaemia. Between crises, patients are usually well with normal growth and development; however significant ingestion of fructose, sucrose or glycerol during acute crises may be fatal, hence the importance of a prompt diagnosis. We present the case of a 30-year-old male who presented to our tertiary centre acutely unwell, shortly following a diagnosis of hepatitis C, which we speculate may have precipitated this severe presentation. He had similar, milder episodes throughout childhood. Furthermore, a pathological homozygous sequence variant in fructose-1,6-bisphosphatase (FBP1) gene, previously unreported, was identified. Diagnosis in adulthood is underreported in the literature, however, represents an important, albeit rare, cause of hypoglycaemia and lactic acidosis.FBP1 gene, fructose-1,6-bisphosphatase deficiency, gluconeogenesis, hepatitis C, hypoglycaemia, inborn errors of fructose metabolism SYNOPSIS FBP1 deficiency is an important, albeit rare, cause of hypoglycaemia and lactic acidosis in adults; we speculate that this severe presentation was precipitated by newly diagnosed hepatitis C.

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Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder

Cited by 8 publications

References 10 publications

Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation

Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation

Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child

A novel variant of fructose‐1,6‐bisphosphatase gene identified in an adult with newly diagnosed hepatitis C

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