Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

Lonlay, P. De; Cuer, Maryvonne; Vuillaumier‐Barrot, Sandrine; Beaune, G.; Castelnau, Pierre; Kretz, Michel; Durand, Geneviève; Saudubray, Jean‐Marie; Seta, Nathalie

doi:10.1016/s0022-3476(99)70139-3

Cited by 128 publications

(122 citation statements)

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“…Although Man-6-P is the limiting glycosylation precursor in CDG-Ib patients, it becomes toxic in the mouse when PMI is lost completely. A minimum of PMI activity seems necessary to "detoxify" the cells from accumulating Man-6-P. CDG-Ib fibroblasts growing in media containing up to 500 M Man do not accumulate Man-6-P. 7 However, PMI expression is variable (3), and the HK:PMI ratio will influence Man-6-P levels. For instance, PMI expression is extremely high in round spermatids that have low HK activity and glycolytic flux, but in spermatozoa, the ratio is reversed.…”

Section: Discussionmentioning

confidence: 99%

Ablation of Mouse Phosphomannose Isomerase (Mpi) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality

DeRossi

Bode

Eklund

et al. 2006

Journal of Biological Chemistry

101

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Section: Discussionmentioning

confidence: 99%

Ablation of Mouse Phosphomannose Isomerase (Mpi) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality

DeRossi

Bode

Eklund

et al. 2006

Journal of Biological Chemistry

101

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“…These patients typically present at an older age with varying degrees of symptoms. A diagnosis of multiple endocrine neoplasia syndrome type 1 should be considered in a patient with a pancreatic islet cell tumor (39 ).…”

Section: Hi Mimickersmentioning

confidence: 99%

Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough

2008

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BACKGROUND: Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. HI is characterized by dysregulated insulin secretion, which results in persistent mild to severe hypoglycemia. The various forms of HI represent a group of clinically, genetically, and morphologically heterogeneous disorders.CONTENT: Congenital hyperinsulinism is associated with mutations of SUR-1 and Kir6.2, glucokinase, glutamate dehydrogenase, short-chain 3-hydroxyacylCoA dehydrogenase, and ectopic expression on ␤-cell plasma membrane of SLC16A1. Hyperinsulinism can be associated with perinatal stress such as birth asphyxia, maternal toxemia, prematurity, or intrauterine growth retardation, resulting in prolonged neonatal hypoglycemia. Mimickers of hyperinsulinism include neonatal panhypopituitarism, drug-induced hypoglycemia, insulinoma, antiinsulin and insulin-receptor stimulating antibodies, Beckwith-Wiedemann Syndrome, and congenital disorders of glycosylation. Laboratory testing for hyperinsulinism may include quantification of blood glucose, plasma insulin, plasma ␤-hydroxybutyrate, plasma fatty acids, plasma ammonia, plasma acylcarnitine profile, and urine organic acids. Genetic testing is available through commercial laboratories for genes known to be associated with hyperinsulinism. Acute insulin response (AIR) tests are useful in phenotypic characterization. Imaging and histologic tools are also available for diagnosing and classifying hyperinsulinism. The goal of treatment in infants with hyperinsulinism is to prevent brain damage from hypoglycemia by maintaining plasma glucose levels above 700 mg/L (70 mg/dL) through pharmacologic or surgical therapy.

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“…Ces résultats mettent en évidence la complexité et les intrications des voies de biosynthèse au sein du processus de glycosylation au sens large. Dans certains cas, ces passerelles métaboliques peuvent constituer un recours et permettre la mise en place d'un traitement par supplémentation orale en mannose pour le CDG Ib [19].…”

Section: Conséquences Des Anomalies De Synthèse Ou D'utilisation Des unclassified

Les anomalies congénitales de glycosylation des N-glycosylprotéines

2004

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Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

Cited by 128 publications

References 17 publications

Ablation of Mouse Phosphomannose Isomerase (Mpi) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality

Ablation of Mouse Phosphomannose Isomerase (Mpi) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality

Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough

Les anomalies congénitales de glycosylation des N-glycosylprotéines

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