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Triglyceride storage disease, type 1

MedGen UID:
349897
•Concept ID:
C1860821
•
Disease or Syndrome
Synonym: Triglyceride storage disease, type I
 
Monarch Initiative: MONDO:0008601
OMIM®: 190420

Clinical features

From HPO
Decreased body weight
MedGen UID:
1806755
•Concept ID:
C5574742
•
Finding
Abnormally low body weight.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series.
Aljouda L, Nagy L, Schulze A
Nutrients 2023 Aug 11;15(16) doi: 10.3390/nu15163535. PMID: 37630727Free PMC Article
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374
Lipid storage myopathies. A review of metabolic defect and of treatment.
Angelini C
J Neurol 1976 Nov 26;214(1):1-11. doi: 10.1007/BF00313485. PMID: 62824

Recent clinical studies

Etiology

Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.
Cho JH, Weinstein DA, Lee YM
J Inherit Metab Dis 2021 Jan;44(1):118-128. Epub 2020 Jul 2 doi: 10.1002/jimd.12267. PMID: 32474930
Sex-based differences in hepatic and skeletal muscle triglyceride storage and metabolism (1).
Beaudry KM, Devries MC
Appl Physiol Nutr Metab 2019 Aug;44(8):805-813. Epub 2019 Jan 31 doi: 10.1139/apnm-2018-0635. PMID: 30702924
Lipid storage myopathies: Current treatments and future directions.
Vasiljevski ER, Summers MA, Little DG, Schindeler A
Prog Lipid Res 2018 Oct;72:1-17. Epub 2018 Aug 9 doi: 10.1016/j.plipres.2018.08.001. PMID: 30099045
Lumenal lipid metabolism: implications for lipoprotein assembly.
Lehner R, Lian J, Quiroga AD
Arterioscler Thromb Vasc Biol 2012 May;32(5):1087-93. doi: 10.1161/ATVBAHA.111.241497. PMID: 22517367
Hyperlipidaemia in children.
Lloyd JK
Br Heart J 1975 Feb;37(2):105-14. doi: 10.1136/hrt.37.2.105. PMID: 164201Free PMC Article

Diagnosis

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374
Lipid storage myopathies: Current treatments and future directions.
Vasiljevski ER, Summers MA, Little DG, Schindeler A
Prog Lipid Res 2018 Oct;72:1-17. Epub 2018 Aug 9 doi: 10.1016/j.plipres.2018.08.001. PMID: 30099045
The skeletal and heart muscle triacylglycerol lipolysis revisited.
Knapp M, Gorski J
J Physiol Pharmacol 2017 Feb;68(1):3-11. PMID: 28456765
Skeletal muscle and nuclear hormone receptors: implications for cardiovascular and metabolic disease.
Smith AG, Muscat GE
Int J Biochem Cell Biol 2005 Oct;37(10):2047-63. doi: 10.1016/j.biocel.2005.03.002. PMID: 15922648
Hyperlipidaemia in children.
Lloyd JK
Br Heart J 1975 Feb;37(2):105-14. doi: 10.1136/hrt.37.2.105. PMID: 164201Free PMC Article

Therapy

Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.
Cho JH, Weinstein DA, Lee YM
J Inherit Metab Dis 2021 Jan;44(1):118-128. Epub 2020 Jul 2 doi: 10.1002/jimd.12267. PMID: 32474930
Lipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I.
Zhang ZJ, Yuan YH, Ma MS, Hong YH, Sun ZX, Xu YW, Wei M, Qiu ZQ
Eur Rev Med Pharmacol Sci 2020 Oct;24(19):10036-10044. doi: 10.26355/eurrev_202010_23218. PMID: 33090409
Adipocyte lipolysis: from molecular mechanisms of regulation to disease and therapeutics.
Yang A, Mottillo EP
Biochem J 2020 Mar 13;477(5):985-1008. doi: 10.1042/BCJ20190468. PMID: 32168372Free PMC Article
Pregnancies in glycogen storage disease type Ia.
Martens DH, Rake JP, Schwarz M, Ullrich K, Weinstein DA, Merkel M, Sauer PJ, Smit GP
Am J Obstet Gynecol 2008 Jun;198(6):646.e1-7. Epub 2008 Feb 1 doi: 10.1016/j.ajog.2007.11.050. PMID: 18241814Free PMC Article
Hyperlipidaemia in children.
Lloyd JK
Br Heart J 1975 Feb;37(2):105-14. doi: 10.1136/hrt.37.2.105. PMID: 164201Free PMC Article

Prognosis

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ
J Inherit Metab Dis 2017 Sep;40(5):695-702. Epub 2017 Apr 10 doi: 10.1007/s10545-017-0039-1. PMID: 28397058Free PMC Article
MicroRNA-192* impairs adipocyte triglyceride storage.
Mysore R, Zhou Y, Sädevirta S, Savolainen-Peltonen H, Nidhina Haridas PA, Soronen J, Leivonen M, Sarin AP, Fischer-Posovszky P, Wabitsch M, Yki-Järvinen H, Olkkonen VM
Biochim Biophys Acta 2016 Apr;1861(4):342-51. Epub 2015 Dec 30 doi: 10.1016/j.bbalip.2015.12.019. PMID: 26747651
Interleukin-1 beta: a potential link between stress and the development of visceral obesity.
Speaker KJ, Fleshner M
BMC Physiol 2012 Jun 27;12:8. doi: 10.1186/1472-6793-12-8. PMID: 22738239Free PMC Article
Glycogen storage disease type Ia: frequency and clinical course in Turkish children.
Saltik IN, Ozen H, Ciliv G, Koçak N, Yüce A, Gürakan F, Dinler G
Indian J Pediatr 2000 Jul;67(7):497-501. doi: 10.1007/BF02760476. PMID: 10957834

Clinical prediction guides

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.
Noguera NI, Tavian D, Angelini C, Cortese F, Filosto M, Garibaldi M, Missaglia S, Smigliani A, Zaza A, Pennisi EM
Biomolecules 2023 Mar 1;13(3) doi: 10.3390/biom13030452. PMID: 36979387Free PMC Article
The evolving story of incretins (GIP and GLP-1) in metabolic and cardiovascular disease: A pathophysiological update.
Nauck MA, Quast DR, Wefers J, Pfeiffer AFH
Diabetes Obes Metab 2021 Sep;23 Suppl 3:5-29. doi: 10.1111/dom.14496. PMID: 34310013
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ
J Inherit Metab Dis 2017 Sep;40(5):695-702. Epub 2017 Apr 10 doi: 10.1007/s10545-017-0039-1. PMID: 28397058Free PMC Article
MicroRNA-192* impairs adipocyte triglyceride storage.
Mysore R, Zhou Y, Sädevirta S, Savolainen-Peltonen H, Nidhina Haridas PA, Soronen J, Leivonen M, Sarin AP, Fischer-Posovszky P, Wabitsch M, Yki-Järvinen H, Olkkonen VM
Biochim Biophys Acta 2016 Apr;1861(4):342-51. Epub 2015 Dec 30 doi: 10.1016/j.bbalip.2015.12.019. PMID: 26747651
Glycogen storage disease type I: laboratory data and diagnosis.
Wakid NW, Bitar JG, Allam CK
Clin Chem 1987 Nov;33(11):2008-10. PMID: 2824093

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