Liver Disorders Caused by Inborn Errors of Metabolism

被引:2
作者
Vakili, Omid [1 ]
Mafi, Alireza [1 ]
Pourfarzam, Morteza [1 ,2 ,3 ,4 ]
机构
[1] Isfahan Univ Med Sci, Dept Clin Biochem, Sch Pharm & Pharmaceut Sci, Esfahan, Iran
[2] Isfahan Univ Med Sci, Bioinformat Res Ctr, Sch Pharm & Pharmaceut Sci, Esfahan, Iran
[3] Isfahan Univ Med Sci, Dept Clin Biochem, Esfahan, Iran
[4] Isfahan Univ Med Sci, Bioinformat Res Ctr, Sch Pharm & Pharmaceut Sci, Esfahan, Iran
关键词
Inborn errors of metabolism; cholestasis; obstructive jaundice; hepatosplenomegaly; liver failure; hepatic dysfunction; FATTY-ACID OXIDATION; LYSOSOMAL STORAGE DISORDERS; TYROSINEMIA TYPE-I; CONGENITAL ERYTHROPOIETIC PORPHYRIA; RESPIRATORY-CHAIN DISORDERS; UREA CYCLE DISORDERS; ALPHA-1-ANTITRYPSIN DEFICIENCY; ALPHA(1)-ANTITRYPSIN DEFICIENCY; FUMARYLACETOACETATE HYDROLASE; MOLECULAR-BASIS;
D O I
10.2174/1871530323666230623120935
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:194 / 207
页数:14
相关论文
共 119 条
  • [1] Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests
    Adam, Barbara W.
    Flores, Sharon R.
    Hou, Yu
    Allen, Todd W.
    De Jesus, Victor R.
    [J]. CLINICAL BIOCHEMISTRY, 2015, 48 (06) : 437 - 442
  • [2] Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice
    Agana, Marisha
    Frueh, Julia
    Kamboj, Manmohan
    Patel, Dilip R.
    Kanungo, Shibani
    [J]. ANNALS OF TRANSLATIONAL MEDICINE, 2018, 6 (24)
  • [3] Hereditary fructose intolerance
    Ali, M
    Rellos, P
    Cox, TM
    [J]. JOURNAL OF MEDICAL GENETICS, 1998, 35 (05) : 353 - 365
  • [4] Angileri F, 2015, JIMD REP, V19, P43, DOI 10.1007/8904_2014_363
  • [5] Clinical, molecular, and genetic evaluation of galactosemia in Turkish children
    Atik, Sezen Ugan
    Gursoy, Semra
    Kockar, Tuba
    Onal, Hasan
    Adal, Servet Erdal
    [J]. TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, 2016, 51 (04): : 204 - 209
  • [6] CHOP and c-JUN up-regulate the mutant Z α1-antitrypsin, exacerbating its aggregation and liver proteotoxicity
    Attanasio, Sergio
    Ferriero, Rosa
    Gernoux, Gwladys
    De Cegli, Rossella
    Carissimo, Annamaria
    Nusco, Edoardo
    Campione, Severo
    Teckman, Jeffrey
    Mueller, Christian
    Piccolo, Pasquale
    Brunetti-Pierri, Nicola
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2020, 295 (38) : 13213 - 13223
  • [7] Observational study of birth outcomes in children with inborn errors of metabolism
    Auger, Nathalie
    Bilodeau-Bertrand, Marianne
    Brousseau, Emilie
    Nelson, Chantal
    Arbour, Laura
    [J]. PEDIATRIC RESEARCH, 2022, 92 (04) : 1181 - 1187
  • [8] Skeletal health in adult patients with classic galactosemia
    Batey, L. A.
    Welt, C. K.
    Rohr, F.
    Wessel, A.
    Anastasoaie, V.
    Feldman, H. A.
    Guo, C. -Y.
    Rubio-Gozalbo, E.
    Berry, G.
    Gordon, C. M.
    [J]. OSTEOPOROSIS INTERNATIONAL, 2013, 24 (02) : 501 - 509
  • [9] Treatment strategies for lysosomal storage disorders
    Beck, Michael
    [J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2018, 60 (01) : 13 - 18
  • [10] Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1
    Bergeron, A
    D'Astous, M
    Timm, DE
    Tanguay, RM
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (18) : 15225 - 15231