Research & Literature

Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI.

Kärki M, Näntö-Salonen K, Niinikoski H, Tanner LM

JIMD reports 2016; (25()):47-55 doi:10.1007/8904_2015_465.

Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport.

Kurko J, Vähä-Mäkilä M, Tringham M, et al.

Molecular immunology 2015; (67(2 Pt B)):416-25.

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

Nicolas C, Bednarek N, Vuiblet V, et al.

JIMD reports 2016; (29()):11-17 doi:10.1007/8904_2015_509.

Clinical and genetic features of lysinuric protein intolerance in Japan.

Noguchi A, Nakamura K, Murayama K, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2016; (58(10)):979-983 doi:10.1111/ped.12946.

Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).

Kurko J, Tringham M, Tanner L, et al.

Metabolism: clinical and experimental 2016; (65(9)):1361-75.

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Bijarnia-Mahay S, Jain V, Bansal RK, et al.

Indian pediatrics 2016; (53(8)):732-4 doi:10.1007/s13312-016-0920-2.

Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age.

Alavuk Kundović S, Popović L

Indian journal of pediatrics 2017; (84(9)):721-723 doi:10.1007/s12098-017-2365-6.

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.

Carpentieri D, Barnhart MF, Aleck K, et al.

Molecular genetics and metabolism reports 2015; (2()):47-50 doi:10.1016/j.ymgmr.2014.12.005.

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency.

Frémond ML, Hadchouel A, Schweitzer C, et al.

Thorax 2018; (73(6)):590-592 doi:10.1136/thoraxjnl-2017-211076.

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Almontashiri NAM, Demirbas D, Berry GT, Peake RWA

Clinical chemistry 2018; (64(8)):1260-1262 doi:10.1373/clinchem.2018.291146.

The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.

Wiwattanadittakul N, Prust M, Gaillard WD, et al.

Molecular genetics and metabolism 2018; (125(3)):235-240 doi:10.1016/j.ymgme.2018.08.011.

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.

Bennett EE, Hummel K, Smith AG, Longo N

The Journal of emergency medicine 2019; (56(1)):e5-e8 doi:10.1016/j.jemermed.2018.09.037.

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework.

Williams C, van der Meij BS, Nisbet J, et al.

Nutrition & dietetics : the journal of the Dietitians Association of Australia 2019; (76(2)):141-149 doi:10.1111/1747-0080.12517.

[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].

Cui D, Hu YH, Tang G, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(4)):375-380.

Rise Above: Experiences of Spirituality Among Family Caregivers Caring for Their Dying Family Member in a Hospice Setting in Pakistan.

Lalani N, Duggleby W, Olson J

Journal of hospice and palliative nursing : JHPN : the official journal of the Hospice and Palliative Nurses Association 2019; (21(5)):422-429 doi:10.1097/NJH.0000000000000584.

Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.

Kang E, Kim T, Oh A, et al.

Journal of human genetics 2019; (64(11)):1137-1140 doi:10.1038/s10038-019-0657-6.

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.

Bodoy S, Sotillo F, Espino-Guarch M, et al.

International journal of molecular sciences 2019; (20(21)) doi:10.3390/ijms20215294.

y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.

Rotoli BM, Barilli A, Visigalli R, et al.

Journal of cellular and molecular medicine 2020; (24(1)):921-929 doi:10.1111/jcmm.14801.

Pearls & Oy-sters: Chemotherapy-associated hyperammonemic encephalopathy.

Neves Briard J, Lezaic N, Keezer MR

Neurology 2020; (94(8)):e874-e877 doi:10.1212/WNL.0000000000009004.

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Dimitriou C, Saliba S, Peyrassol X, et al.

Clinical case reports 2020; (8(6)):1010-1014 doi:10.1002/ccr3.2780.

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.

Alqarajeh F, Omorodion J, Bosfield K, et al.

Translational science of rare diseases 2020; (5(1-2)):81-86 doi:10.3233/TRD-190035.

Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.

Al-Qattan S, Malcolmson C, Mercimek-Andrews S

Molecular genetics and metabolism reports 2021; (27()):100741 doi:10.1016/j.ymgmr.2021.100741.

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

Avci Durmusalioglu E, Isik E, Ayyildiz Emecen D, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(7)):957-960 doi:10.1515/jpem-2021-0018.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Contreras JL, Ladino MA, Aránguiz K, et al.

Frontiers in pediatrics 2021; (9()):673957 doi:10.3389/fped.2021.673957.

Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.

Matsukawa Y, Sakamoto K, Ikeda Y, et al.

International journal of hematology 2022; (116(4)):635-638 doi:10.1007/s12185-022-03375-z.

Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature.

Dalsania N, Kundu S, Patti RK, et al.

Journal of investigative medicine high impact case reports 2022; (10()):23247096221101855 doi:10.1177/23247096221101855.

Children with lysinuric protein intolerance: Experience from a lower middle income country.

Hashmi SB, Ahmed S

World journal of clinical pediatrics 2022; (11(4)):369-374 doi:10.5409/wjcp.v11.i4.369.

Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.

IJzermans T, van der Meijden W, Hoeks M, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2023; (81(4)):493-496 doi:10.1053/j.ajkd.2022.08.019.

Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.

Stroup BM, Li X, Ho S, et al.

Disease models & mechanisms 2023; (16(8)) doi:10.1242/dmm.050118.

Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.

Lokuhewage C, Pathiraja H, Madawala P, et al.

BMC pediatrics 2023; (23(1)):382 doi:10.1186/s12887-023-04207-7.

A complicated case of whole-lung lavage: a case report.

Petrarulo S, Lucchin M, Oldani S, et al.

Frontiers in medicine 2023; (10()):1225167 doi:10.3389/fmed.2023.1225167.

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings.

Kalay I, Aykut H, Caliskan Z, et al.

Molecular genetics and metabolism reports 2023; (37()):101022 doi:10.1016/j.ymgmr.2023.101022.

[Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].

Quan J, Liu XF, Hu K, Hou Q

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(12)):1270-1275 doi:10.7499/j.issn.1008-8830.2306148.

A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.

Wang Y, Li H, Huang Z, et al.

Heliyon 2024; (10(5)):e27044 doi:10.1016/j.heliyon.2024.e27044.

Meaning-Making Among Parents of Children With Severe Neurologic Impairment in the PICU.

Bogetz JF, Oslin E, O'Donnell M, et al.

Pediatrics 2024; (153(4)) doi:10.1542/peds.2023-064361.

The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.

Chakraborty S, Kaur R, Patra B, et al.

Indian journal of pediatrics 2025; (92(1)):70-72 doi:10.1007/s12098-024-05124-y.

Survey of patient satisfaction with genetic counseling services in Korea.

Choi IH, Kim YK, Yang SY, et al.

Journal of genetic counseling 2025; (34(1)):e1922 doi:10.1002/jgc4.1922.

Title not available

Jbebli E, Jbeli Y, Amdouni R, et al.

La Tunisie medicale 2024; (102(5)):284-288 doi:10.62438/tunismed.v102i5.4792.

Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report.

Vojcek E, Krikovszky D, Lódi C, et al.

Italian journal of pediatrics 2024; (50(1)):111 doi:10.1186/s13052-024-01677-y.

Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.

Rigoldi M, Mele C, Breno M, et al.

Nephron 2025; (149(2)):116-124 doi:10.1159/000541363.

Compensation for metabolic dietitians practicing in the United States: 2023 genetic metabolic dietitians international professional status survey.

Viau K, Gaughan S, Kopesky J, et al.

Molecular genetics and metabolism reports 2024; (41()):101147 doi:10.1016/j.ymgmr.2024.101147.

Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method.

Moscarello T, Higgs E, Pollard E, et al.

Journal of genetic counseling 2025; (34(3)):e1998 doi:10.1002/jgc4.1998.

Outcomes of kidney transplantation in patients with lysinuric protein intolerance.

Rautanen T, Ahopelto K, Niinikoski H, et al.

Clinical kidney journal 2025; (18(1)):sfae373 doi:10.1093/ckj/sfae373.

Interstitial Lung Disease in Lysinuric Protein Intolerance Diagnosed by a Transbronchial Lung Cryobiopsy.

Ono M, Abe M, Saiki A, et al.

Internal medicine (Tokyo, Japan) 2025; (64(15)):2375-2381 doi:10.2169/internalmedicine.4074-24.

Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury.

Kakisaka K, Sato T, Wada Y, et al.

Molecular genetics and metabolism 2025; (145(2)):109134 doi:10.1016/j.ymgme.2025.109134.

Caregiver burden in family caregivers of individuals with cancer in Iran: an analytical cross-sectional study.

Mirshahi A, Farsi Z, Sajadi SA, et al.

Journal of health, population, and nutrition 2025; (44(1)):186 doi:10.1186/s41043-025-00929-9.

Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.

Pascual López JR, Wu W, Konczal L

Biochemistry and biophysics reports 2025; (44()):102229 doi:10.1016/j.bbrep.2025.102229.

Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.

Zubarovskaya N, Mayr JA, Aigner E, et al.

Molecular genetics and metabolism 2025; (147(1)):109688 doi:10.1016/j.ymgme.2025.109688.

Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.

Li Y, Lv Q, Lu W, et al.

Orphanet journal of rare diseases 2026; (21(1)).