Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin
Abstract Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypical...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-11-01
|
| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12397 |
| _version_ | 1827773601361690624 |
|---|---|
| author | Shelby L. Mills Paige Roberts Myla Ashfaq Kathryn Leal Hope Northrup Deborah L. Brown David Rodriguez‐Buritica Laura S. Farach |
| author_facet | Shelby L. Mills Paige Roberts Myla Ashfaq Kathryn Leal Hope Northrup Deborah L. Brown David Rodriguez‐Buritica Laura S. Farach |
| author_sort | Shelby L. Mills |
| collection | DOAJ |
| description | Abstract Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may evade diagnosis and require a thoughtful diagnostic workup. Here, we discuss three females of Latin American origin with differing clinical presentations, but who all have the same intronic pathogenic variant in ARG1. Importantly, we found that each case included elevated coagulopathy on laboratory testing and discussed one case in particular with manifestation of bleeding. When diagnosed early, treatment is favorable and can prevent progressive decline. While many states have added ARG1‐D to their expanded newborn screening panels, still many states and countries do not screen for ARG1‐D, and it can be missed in a healthy newborn. We aim to bring awareness to not only the classic presentation as a necessary consideration for otherwise unexplained spastic diplegia but also to the varied presentations of ARG1‐D. |
| first_indexed | 2024-03-11T13:25:10Z |
| format | Article |
| id | doaj.art-161bc960bd1f443781250b65c400c99a |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-03-11T13:25:10Z |
| publishDate | 2023-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-161bc960bd1f443781250b65c400c99a2023-11-03T07:45:49ZengWileyJIMD Reports2192-83122023-11-0164643443910.1002/jmd2.12397Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American originShelby L. Mills0Paige Roberts1Myla Ashfaq2Kathryn Leal3Hope Northrup4Deborah L. Brown5David Rodriguez‐Buritica6Laura S. Farach7Department of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Hematology Oncology McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USADepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USAAbstract Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may evade diagnosis and require a thoughtful diagnostic workup. Here, we discuss three females of Latin American origin with differing clinical presentations, but who all have the same intronic pathogenic variant in ARG1. Importantly, we found that each case included elevated coagulopathy on laboratory testing and discussed one case in particular with manifestation of bleeding. When diagnosed early, treatment is favorable and can prevent progressive decline. While many states have added ARG1‐D to their expanded newborn screening panels, still many states and countries do not screen for ARG1‐D, and it can be missed in a healthy newborn. We aim to bring awareness to not only the classic presentation as a necessary consideration for otherwise unexplained spastic diplegia but also to the varied presentations of ARG1‐D.https://doi.org/10.1002/jmd2.12397arginase deficiencyARG1‐Durea cycle disorderscerebral palsycoagulopathy |
| spellingShingle | Shelby L. Mills Paige Roberts Myla Ashfaq Kathryn Leal Hope Northrup Deborah L. Brown David Rodriguez‐Buritica Laura S. Farach Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin JIMD Reports arginase deficiency ARG1‐D urea cycle disorders cerebral palsy coagulopathy |
| title | Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin |
| title_full | Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin |
| title_fullStr | Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin |
| title_full_unstemmed | Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin |
| title_short | Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin |
| title_sort | arginase deficiency masked by cerebral palsy and coagulopathy three varied presentations of latin american origin |
| topic | arginase deficiency ARG1‐D urea cycle disorders cerebral palsy coagulopathy |
| url | https://doi.org/10.1002/jmd2.12397 |
| work_keys_str_mv | AT shelbylmills arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT paigeroberts arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT mylaashfaq arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT kathrynleal arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT hopenorthrup arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT deborahlbrown arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT davidrodriguezburitica arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin AT laurasfarach arginasedeficiencymaskedbycerebralpalsyandcoagulopathythreevariedpresentationsoflatinamericanorigin |