Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan.

We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension and jaundice progressed rapidly and they died of liver failure. Sebelipase alfa, a recombinant form of human lysosomal acid lipase has recently been used as an enzyme replacement therapy in patients with later-onset cholesteryl ester storage disease. Therefore, we investigated cases of lysosomal acid lipase deficiency in Japan and found that the number of cases was extremely low. Only 14 cases of Wolman disease and seven cases of cholesteryl ester storage disease were reported. As it is now possible to treat lysosomal acid lipase deficiency, it is important to increase awareness of this disease among pediatricians and doctors working in internal medicine. PMID: 29731497 [PubMed - in process]
Source: Journal of Nippon Medical School - Category: Universities & Medical Training Authors: Tags: J Nippon Med Sch Source Type: research

Related Links:

Publication date: Available online 17 February 2020Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Gulim Murzakanova, Sari Räisänen, Anne Flem Jacobsen, Kristina Baker Sole, Lisa Bjarkø, Katariina LaineAbstractObjectiveTo assess the prevalence and risk of adverse perinatal outcomes in early-term (37+0–38+6 weeks), full-term (39+0–40+6 weeks), late-term (41+0–41+6 weeks), and post-term (>42+0 weeks) deliveries with spontaneous labor onset.Study designA population-based cohort with data from the Medical Birth Registry Norway (MBRN) and Statistics...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
Conditions:   Hepatic Echinococcosis;   Jaundice Intervention:   Sponsors:   Universidad de Extremadura;   Complejo Hospitalario Universitario de Badajoz Active, not recruiting
Source: - Category: Research Source Type: clinical trials
Publication date: Available online 15 February 2020Source: Toxicology ReportsAuthor(s): Hellen A. Oketch-Rabah, Amy L. Roe, Cynthia V. Rider, Herbert L. Bonkovsky, Gabriel I. Giancaspro, Victor Navarro, Mary F. Paine, Joseph M. Betz, Robin J. Marles, Steven Casper, Bill Gurley, Scott A. Jordan, Kan He, Mahendra P. Kapoor, Theertham P. Rao, Averell H. Sherker, Robert J. Fontana, Simona Rossi, Raj Vuppalanchi, Leonard B. SeeffABSTRACTAs part of the United States Pharmacopeia’s ongoing review of dietary supplement safety data, a new comprehensive systematic review on green tea extracts (GTE) has been completed. GTEs may...
Source: Toxicology Reports - Category: Toxicology Source Type: research
Soares Albuquerque Indiara Penido Tayrine Araujo Santos Ana Paula Dinis Ano Bom Andrea Marques Vieira da Silva Camilla Bayma Fernandes Carlos Eduardo Calzavara Erna Geessien Kroon Olindo Assis Martins-Filho Andréa Teixeira-Carvalho Betânia Paiva Drumond One patient presented hyporexia, asthenia, adynamia, and jaundice two months after acute yellow fever (YF) onset; plus laboratory tests indicating hepatic cytolysis and a rebound of alanine and aspartate transaminases, and total and direct bilirubin levels. Laboratory tests discarded autoimmune hepatitis, inflammatory or metabolic liver ...
Source: Viruses - Category: Virology Authors: Tags: Case Report Source Type: research
Conditions:   Hepatic Echinococcosis;   Jaundice Intervention:   Sponsors:   Universidad de Extremadura;   Complejo Hospitalario Universitario de Badajoz Active, not recruiting
Source: - Category: Research Source Type: clinical trials
The objective of this case report is to share the uncommon side effect of taking this traditional product which may have been under-reported due to the unknown effect. PMID: 32041919 [PubMed - in process]
Source: Acta medica Indonesiana - Category: Internal Medicine Tags: Acta Med Indones Source Type: research
Source: ScienceNOW - Category: Science Authors: Tags: twis Source Type: news
CONCLUSIONS: According to the results, unknown factors were the most common causes of icterus in Iranian neonates, followed by ABO blood groups incompatibility, infections and G6PD deficiency. By the way, phototherapy and exchange transfusion were found as therapeutic choices of neonatal jaundice. PMID: 32052364 [PubMed - as supplied by publisher]
Source: World Journal of Pediatrics : WJP - Category: Pediatrics Authors: Tags: World J Pediatr Source Type: research
Publication date: Available online 10 February 2020Source: Academic PediatricsAuthor(s): John D. Petersen, Margaret Lozovatsky, Daniela Markovic, Ray Duncan, Simon Zheng, Arash Shamsian, Sonya Kagele, Mindy K. RossAbstractBackgroundPhysiologic neonatal hyperbilirubinemia (jaundice) is common and affects most newborn infants. However, there is a risk for permanent neurological damage if the bilirubin levels rise above a certain threshold. The management of neonatal jaundice includes the assessment of bilirubin laboratory values, consideration of patient-specific risk factors, and plotting on a bilirubin nomogram reference t...
Source: Academic Pediatrics - Category: Pediatrics Source Type: research
Publication date: Available online 7 February 2020Source: Journal of Ayurveda and Integrative MedicineAuthor(s): Tarun Kumar, Anup ThakarAbstractWilson's disease betides due to mutation in ATP-7B that leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney or skeletal system. The symptoms are jaundice, edema in legs, ascites, Kayser-Fleischer rings, dysarthria, dysphagia, ataxia, dyskinesia, and muscle spasticity. Current therapeutic modalities for the management of Wilson's disease include zinc, trientine, penicillamine and ammonium tetrathiomolybdate...
Source: Journal of Ayurveda and Integrative Medicine - Category: Complementary Medicine Source Type: research
More News: Children | Internal Medicine | Japan Health | Jaundice | Liver | Nutrition | Pediatrics | Urology & Nephrology