Lipoprotein Lipase Deficiency in an Infant

被引：0

作者：

Nampoothiri, Sheela ^{[1
]}

Radhakrishnan, Natasha ^{[2
]}

Schwentek, Andrea ^{[3
]}

Hoffmann, Michael Marcus ^{[1
]}

机构：

[1] Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin 682041, Kerala, India

[2] Amrita Inst Med Sci & Res Ctr, Dept Ophthalmol, Cochin 682041, Kerala, India

[3] Univ Med Ctr, Div Clin Chem, D-79106 Freiburg, Germany

来源：

INDIAN PEDIATRICS | 2011年 / 48卷 / 10期

关键词：

Hypertriglyceridemia; Lipoprotein lipase deficiency; Lipemia retinalis; Medium chain triglyceride oil; Mutation analysis; SEVERE HYPERTRIGLYCERIDEMIA; FAMILIAL CHYLOMICRONEMIA; MUTATIONS;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.

引用

页码：805 / 806

页数：2

共 50 条

[41] Neonatal pancreatitis associated with familial lipoprotein lipase deficiency
Siafakas, CG
Brown, MR
Miller, TL
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1999, 29 (01): : 95 - 98
[42] The Role of Acylation Stimulating Protein in Lipoprotein Lipase Deficiency
Paglialunga, Sabina
Julien, Pierre
Cianflone, Katherine
OBESITY, 2008, 16 : S171 - S171
[43] Hereditary lipoprotein lipase deficiency [Hereditärer Lipoproteinlipasemangel]
不详
Monatsschrift Kinderheilkunde, 2015, 163 (5) : 476 - 477
[44] Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate
Raupp, P
Keenan, C
Dowman, M
Nath, R
Hertecant, J
JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (05) : 413 - 414
[45] HYPERTRIGLYCERIDEMIA ASSOCIATED WITH THROMBOCYTOPENIA AND LIPOPROTEIN-LIPASE DEFICIENCY
ROMICS, L
ANNALS OF INTERNAL MEDICINE, 1981, 95 (05) : 660 - 660
[46] Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency
Wierzbicki, Anthony S.
Viljoen, Adie
EXPERT OPINION ON BIOLOGICAL THERAPY, 2013, 13 (01) : 7 - 10
[47] Lipoprotein Lipase Deficiency as a Rare Cause of Acute Pancreatitis
Seo, Dong Joo
Bains, Kanwal
Aslam, Aysha
AMERICAN JOURNAL OF GASTROENTEROLOGY, 2020, 115 : S722 - S723
[48] Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
Tanaka, Sho
Ueno, Takahiro
Tsunemi, Akiko
Nakamura, Yoshihiro
Kobayashi, Hiroki
Hatanaka, Yoshinari
Haketa, Akira
Fukuda, Noboru
Soma, Masayoshi
Abe, Masanori
INTERNAL MEDICINE, 2019, 58 (02) : 251 - 257
[49] Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency
Ng, P
Lam, CWK
Fok, TF
Lee, CH
Lo, DYM
Chan, LYS
Sin, NC
Packard, CJ
JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2001, 37 (03) : 314 - 316
[50] DEFECTIVE ENZYME PROTEIN IN LIPOPROTEIN-LIPASE DEFICIENCY
AUWERX, JH
BABIRAK, SP
FUJIMOTO, WY
IVERIUS, PH
BRUNZELL, JD
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 1989, 19 (05) : 433 - 437

← 1 2 3 4 5 →