Inborn errors of metabolism (IEMs) are a vast array of inherited/congenital disorders, affecting a wide variety of metabolic pathways and/or biochemical processes inside the cells. Although IEMs are usually rare, they can be represented as serious health problems. During the neonatal period, these inherited defects can give rise to almost all key signs of liver malfunction, including jaundice, coagulopathy, hepato- and splenomegaly, ascites, etc. Since the liver is a vital organ with multiple synthetic, metabolic, and excretory functions, IEM-related hepatic dysfunction could seriously be considered life-threatening. In this context, the identification of those hepatic manifestations and their associated characteristics may promote the differential diagnosis of IEMs immediately after birth, making therapeutic strategies more successful in preventing the occurrence of subsequent events. Among all possible liver defects caused by IEMs, cholestatic jaundice, hepatosplenomegaly, and liver failure have been shown to be manifested more frequently. Therefore, the current study aims to review substantial IEMs that mostly result in the aforementioned hepatic disorders, relying on clinical principles, especially through the first years of life. In this article, a group of uncommon hepatic manifestations linked to IEMs is also discussed in brief.
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Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Batey, L. A.
Welt, C. K.
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Massachusetts Gen Hosp, Boston, MA 02114 USAChildrens Hosp Boston, Boston, MA USA
Welt, C. K.
Rohr, F.
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Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Rohr, F.
Wessel, A.
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Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Wessel, A.
Anastasoaie, V.
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Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Anastasoaie, V.
Feldman, H. A.
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Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Feldman, H. A.
Guo, C. -Y.
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Natl Yang Ming Univ, Inst Publ Hlth, Taipei 112, TaiwanChildrens Hosp Boston, Boston, MA USA
Guo, C. -Y.
Rubio-Gozalbo, E.
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Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, Netherlands
Maastricht Univ, Med Ctr, Lab Inherited Metab Dis, Maastricht, NetherlandsChildrens Hosp Boston, Boston, MA USA
Rubio-Gozalbo, E.
Berry, G.
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Childrens Hosp Boston, Boston, MA USA
Manton Ctr Orphan Dis Res, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Berry, G.
Gordon, C. M.
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Childrens Hosp Boston, Boston, MA USA
Childrens Hosp Boston, Div Adolescent Med & Endocrinol, Boston, MA 02115 USAChildrens Hosp Boston, Boston, MA USA
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Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Batey, L. A.
Welt, C. K.
论文数: 0引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Boston, MA 02114 USAChildrens Hosp Boston, Boston, MA USA
Welt, C. K.
Rohr, F.
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h-index: 0
机构:
Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Rohr, F.
Wessel, A.
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h-index: 0
机构:
Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Wessel, A.
Anastasoaie, V.
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h-index: 0
机构:
Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Anastasoaie, V.
Feldman, H. A.
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h-index: 0
机构:
Childrens Hosp Boston, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Feldman, H. A.
Guo, C. -Y.
论文数: 0引用数: 0
h-index: 0
机构:
Natl Yang Ming Univ, Inst Publ Hlth, Taipei 112, TaiwanChildrens Hosp Boston, Boston, MA USA
Guo, C. -Y.
Rubio-Gozalbo, E.
论文数: 0引用数: 0
h-index: 0
机构:
Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, Netherlands
Maastricht Univ, Med Ctr, Lab Inherited Metab Dis, Maastricht, NetherlandsChildrens Hosp Boston, Boston, MA USA
Rubio-Gozalbo, E.
Berry, G.
论文数: 0引用数: 0
h-index: 0
机构:
Childrens Hosp Boston, Boston, MA USA
Manton Ctr Orphan Dis Res, Boston, MA USAChildrens Hosp Boston, Boston, MA USA
Berry, G.
Gordon, C. M.
论文数: 0引用数: 0
h-index: 0
机构:
Childrens Hosp Boston, Boston, MA USA
Childrens Hosp Boston, Div Adolescent Med & Endocrinol, Boston, MA 02115 USAChildrens Hosp Boston, Boston, MA USA