Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

Nagasaka, Hironori; Hirano, Ken‐ichi; Ohtake, Akira; Miida, Takashi; Takatani, Tomozumi; Murayama, Kei; Yorifuji, Tohru; Kobayashi, Kunihiko; Kanazawa, Masato; Ogawa, Atsushi; Takayanagi, Masaki

doi:10.1007/s00431-006-0372-0

Cited by 26 publications

(28 citation statements)

References 21 publications

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“…While our study was in progress, a report on 3 Japanese infants and children suffering from GSD 1a treated with MCT formula milk was published with improvements in hypertriglyceridaemia and hyperlactacidaemia and an increase in acylcarnitines [14] . Using an MCT-based milk formula instead of the 'natural' food used in our study, their patients received more MCT fat than our patients.…”

Section: Discussionmentioning

confidence: 99%

Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

et al. 2010

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Background/Objective: Hypoketotic hypoglycaemia and hypertriglyceridaemia are biochemical hallmarks of glycogen storage disease (GSD) 1. Increased malonyl coenzyme A production which compromises oxidation of long-chain fatty acids via carnitine palmitoyltransferase (CPT) 1 inhibition plays a crucial role in the pathogenesis of these complications. Therapy consists primarily of nutritional support including frequent carbohydrate-rich meals. We studied the effect of a diet enriched in medium-chain triglycerides (MCT) on metabolic control/growth in GSD 1 as medium-chain fatty acids can be oxidised independently of CPT 1. Methods: An adult female, a 1.6-year-old boy with GSD 1a and a 6.5-year-old girl with GSD 1b treated with a classical GSD diet were enrolled; their ‘classical GSD diet’ was supplemented with MCT fats. Concentrations of glucose, lactate, ketone bodies triglycerides, uric acid, acylcarnitines in blood and organic acids in urine were determined. Results: No clinical or biochemical side-effects were observed. The MCT diet led to a decrease in uric acid concentrations in all patients. Triglyceride levels were reduced only in the youngest patient, while lactate concentrations did not significantly decrease. The MCT diet allowed for a reduction in carbohydrate and caloric intake required to maintain euglycaemia and led to improvement in growth in the two prepubertal patients. Conclusions: MCT supplementation had a positive effect on metabolic control and growth in our patients suffering from GSD 1.

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Section: Discussionmentioning

confidence: 99%

Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

et al. 2010

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“…90 A small pilot study on milk supplemented with medium-chain triglycerides showed that the supplement reduced serum levels of lactate and triglyceride but increased HDl cholesterol levels. 91 The results suggest that despite the control of hypoglycemia, the underlying pathological process remains uncorrected and long-term complications, including renal disease and liver adenomas, two major causes of morbidity and mortality in patients with GSD-I, remain with current dietary therapies.…”

Section: Treatmentmentioning

confidence: 99%

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

2010

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Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6- phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). A third disorder, G6Pase-β deficiency, shares similarities with this group of diseases. G6Pase-α and G6Pase-β are G6P hydrolases in the membrane of the endoplasmic reticulum, which depend on G6PT to transport G6P from the cytoplasm into the lumen. A functional complex of G6PT and G6Pase-α maintains interprandial glucose homeostasis, whereas G6PT and G6Pase-β act in conjunction to maintain neutrophil function and homeostasis. Patients with GSD-Ia and those with GSD-Ib exhibit a common metabolic phenotype of disturbed glucose homeostasis that is not evident in patients with G6Pase-β deficiency. Patients with a deficiency in G6PT and those lacking G6Pase-β display a common myeloid phenotype that is not shared by patients with GSD-Ia. Previous studies have shown that neutrophils express the complex of G6PT and G6Pase-β to produce endogenous glucose. Inactivation of either G6PT or G6Pase-β increases neutrophil apoptosis, which underlies, at least in part, neutrophil loss (neutropenia) and dysfunction in GSD-Ib and G6Pase-β deficiency. Dietary and/or granulocyte colony-stimulating factor therapies are available; however, many aspects of the diseases are still poorly understood. This Review will address the etiology of GSD-Ia, GSD-Ib and G6Pase-β deficiency and highlight advances in diagnosis and new treatment approaches, including gene therapy.

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“…109,110 The effect of medium-chain triglycerides on lowering cholesterol and triglycerides is currently being studied. 111,112 The use of vitamin E and its effectiveness in reducing the frequency of infection and improving neutropenia has been reported. 113 In conclusion, dietary therapy for the treatment of GSD I has improved the long-term outcomes for patients, but, unfortunately, many complications remain.…”

Section: Other Dietary Considerationsmentioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

361

554

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Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

Cited by 26 publications

References 21 publications

Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

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