Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (HLH), decreased bone mineral density and multiple...
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2021-06-01
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doaj-e03955e5c5474efb99458a49ba0616ae2021-05-30T04:43:01ZengElsevierMolecular Genetics and Metabolism Reports2214-42692021-06-0127100741Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boySarah Al-Qattan0Caroline Malcolmson1Saadet Mercimek-Andrews2Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, CanadaDivision of Hematology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, CanadaDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Edmonton, Alberta, Canada; Corresponding author at: Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Alberta Health Services, 8-39 Medical Sciences Building, 8613 – 114 Street, Edmonton, Alberta T6G 2H7, Canada.We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (HLH), decreased bone mineral density and multiple thoracic spine compression fractures on X-ray. LPI was suspected, but urine amino acid profile and normal orotic acid did not suggest biochemical diagnosis of LPI. Targeted next generation sequencing panel for HLH (including SLC7A7) was organized. Due to elevated glutamine in plasma amino acid analysis, a metabolic consultation was initiated and his asymptomatic post-prandial ammonia was 295 μmol/L. We then suspected n-acetylglutamate synthase or carbamoyl-phosphate synthase I deficiency due to marked hyperammonemia, elevated glutamine level, normal orotic acid, and normalization of ammonia at 2 h of carglumic acid (200 mg/kg/d). His targeted next generation sequencing panel for HLH revealed homozygous pathogenic variant in SLC7A7 ((NM_001126106.2): c.726G>A (p.Trp242*)) and confirmed the diagnosis of LPI. We emphasize the importance of genetic investigations in the diagnosis of LPI.http://www.sciencedirect.com/science/article/pii/S2214426921000355Lysinuric protein intoleranceHemophagocytic lymphohistiocytosisHyperammonemiaOsteoporosis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sarah Al-Qattan Caroline Malcolmson Saadet Mercimek-Andrews |
spellingShingle |
Sarah Al-Qattan Caroline Malcolmson Saadet Mercimek-Andrews Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy Molecular Genetics and Metabolism Reports Lysinuric protein intolerance Hemophagocytic lymphohistiocytosis Hyperammonemia Osteoporosis |
author_facet |
Sarah Al-Qattan Caroline Malcolmson Saadet Mercimek-Andrews |
author_sort |
Sarah Al-Qattan |
title |
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy |
title_short |
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy |
title_full |
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy |
title_fullStr |
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy |
title_full_unstemmed |
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy |
title_sort |
lysinuric protein intolerance mimicking n-acetylglutamate synthase deficiency in a nine-year-old boy |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2021-06-01 |
description |
We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (HLH), decreased bone mineral density and multiple thoracic spine compression fractures on X-ray. LPI was suspected, but urine amino acid profile and normal orotic acid did not suggest biochemical diagnosis of LPI. Targeted next generation sequencing panel for HLH (including SLC7A7) was organized. Due to elevated glutamine in plasma amino acid analysis, a metabolic consultation was initiated and his asymptomatic post-prandial ammonia was 295 μmol/L. We then suspected n-acetylglutamate synthase or carbamoyl-phosphate synthase I deficiency due to marked hyperammonemia, elevated glutamine level, normal orotic acid, and normalization of ammonia at 2 h of carglumic acid (200 mg/kg/d). His targeted next generation sequencing panel for HLH revealed homozygous pathogenic variant in SLC7A7 ((NM_001126106.2): c.726G>A (p.Trp242*)) and confirmed the diagnosis of LPI. We emphasize the importance of genetic investigations in the diagnosis of LPI. |
topic |
Lysinuric protein intolerance Hemophagocytic lymphohistiocytosis Hyperammonemia Osteoporosis |
url |
http://www.sciencedirect.com/science/article/pii/S2214426921000355 |
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