Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder
Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. Observations: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citruline...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-06-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993624000549 |
| _version_ | 1797220556459737088 |
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| author | Davoud Amirkashani Saeid Talebi Mohammad Vafaei shahi Ali Zekri Parisa Abdi Mahdokht Mehramiz |
| author_facet | Davoud Amirkashani Saeid Talebi Mohammad Vafaei shahi Ali Zekri Parisa Abdi Mahdokht Mehramiz |
| author_sort | Davoud Amirkashani |
| collection | DOAJ |
| description | Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. Observations: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing. Biomicroscopic examination revealed bilateral corneal haziness with pseudodendritic lesions like tyrosinemia type 2 that were subsided with protein restriction and the use of urea cycle disease (UCD) formula. Conclusions and importance: Citrullinemia is the inherited autosomal recessive disorder of urea cycle that leads to ammonia and accumulation of other toxic substances in the blood. Two types of Citrullinemia have been defined. Citrullinemia type 1, caused by deficiency or reduction in argininosuccinate synthetase enzyme activity due to damaging mutation in ASS1 gene. Citrullinemia type 2 as another subtype is caused by the absence or dysfunction of the mitochondrial membrane carrier protein (SLC25A13), also called CITRIN. Pseudodendritic keratitis is a rare condition that may be seen with tyrosinemia type 2. The association of this ocular complaint with citrullinemia has not been described previously. Awareness of this phenomenon may improve the diagnosis and management of citrullinemia patients. |
| first_indexed | 2024-04-24T12:51:25Z |
| format | Article |
| id | doaj.art-b67369ce6fd34627a382705ecba54594 |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-04-24T12:51:25Z |
| publishDate | 2024-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-b67369ce6fd34627a382705ecba545942024-04-06T04:40:14ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362024-06-0134102044Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorderDavoud Amirkashani0Saeid Talebi1Mohammad Vafaei shahi2Ali Zekri3Parisa Abdi4Mahdokht Mehramiz5Department of Pediatric Endocrinology, Aliasghar Children's Hospital, Aliasghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, IranPediatric Growth and Development Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, IranPhysiology Research Center, Iran University of Medical Sciences, Tehran, IranTranslational Ophthalmology Research Center (TORC), Farabi Eye Hospital, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Corresponding author.Department of Pediatric Endocrinology, Aliasghar Children's Hospital, Aliasghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, IranPurpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2. Observations: A 15 year old female was admitted with decreased consciousness and neurologic signs and symptoms. Citrulinemia was discovered through metabolic testing. Later genetic studies revealed mutations in both ASS1 and SLC25A13 genes. Two years after the first presentation, the patient was re-admitted with complaints of bilateral photophobia and tearing. Biomicroscopic examination revealed bilateral corneal haziness with pseudodendritic lesions like tyrosinemia type 2 that were subsided with protein restriction and the use of urea cycle disease (UCD) formula. Conclusions and importance: Citrullinemia is the inherited autosomal recessive disorder of urea cycle that leads to ammonia and accumulation of other toxic substances in the blood. Two types of Citrullinemia have been defined. Citrullinemia type 1, caused by deficiency or reduction in argininosuccinate synthetase enzyme activity due to damaging mutation in ASS1 gene. Citrullinemia type 2 as another subtype is caused by the absence or dysfunction of the mitochondrial membrane carrier protein (SLC25A13), also called CITRIN. Pseudodendritic keratitis is a rare condition that may be seen with tyrosinemia type 2. The association of this ocular complaint with citrullinemia has not been described previously. Awareness of this phenomenon may improve the diagnosis and management of citrullinemia patients.http://www.sciencedirect.com/science/article/pii/S2451993624000549CitrullinemiaPseudodendritic keratitisTyrosinemia |
| spellingShingle | Davoud Amirkashani Saeid Talebi Mohammad Vafaei shahi Ali Zekri Parisa Abdi Mahdokht Mehramiz Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder American Journal of Ophthalmology Case Reports Citrullinemia Pseudodendritic keratitis Tyrosinemia |
| title | Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder |
| title_full | Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder |
| title_fullStr | Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder |
| title_full_unstemmed | Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder |
| title_short | Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder |
| title_sort | pseudodendritic keratitis in citrullinemia a report of an unusual and novel ocular finding in this metabolic disorder |
| topic | Citrullinemia Pseudodendritic keratitis Tyrosinemia |
| url | http://www.sciencedirect.com/science/article/pii/S2451993624000549 |
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