ArticleThe Journal of clinical endocrinology and metabolism2019
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
Article in The Journal of clinical endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Sphingosine phosphate lyase insufficiency syndrome: a systematic review.World journal of pediatrics : WJP · 2023Pooled it
- Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature.Molecular genetics and metabolism reports · 2025Review
- Review
- Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.Molecular genetics & genomic medicine · 2025Article
- Sphingosine phosphate lyase insufficiency syndrome as a primary immunodeficiency state.Advances in biological regulation · 2024Review
- Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.Orphanet journal of rare diseases · 2024Article
- Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.Genetics in medicine open · 2024Article
- Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.Endocrine · 2023Review
- Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.Reviews in endocrine & metabolic disorders · 2023Review
- Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes.Hormones (Athens, Greece) · 2023Review
- Steroid-resistant nephrotic syndrome associated with certainFrontiers in pediatrics · 2023Article
- A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.Endocrine connections · 2022Review
- Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.Journal of the Endocrine Society · 2022Article
- Neurological Consequences of Sphingosine Phosphate Lyase Insufficiency.Frontiers in cellular neuroscience · 2022Review
- Genetic aetiology of primary adrenal insufficiency in Chinese children.BMC medical genomics · 2021Article
- Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome.JCI insight · 2021Article
- MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.AJNR. American journal of neuroradiology · 2020Article
- Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction.The Journal of steroid biochemistry and molecular biology · 2020Article
- Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.Journal of inherited metabolic disease · 2020Article
- A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.Frontiers in pediatrics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
contextMultiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations, including PAI.
objectiveTo check if SGPL1 mutations are involved in the pathogenesis of PAI in patients who do not exhibit nephrotic syndrome.
methodsSequencing of the SGPL1 gene in 21 patients with familial glucocorticoid disease or triple A syndrome.
resultsWe identified two missense SGPL1 variants in four patients, two of whom were first cousins. We describe in detail the proband, a boy born to Saudi Arabian consanguineous parents with a homozygous c.665G>A, p.R222Q SGPL1 variant. The patient presented with hypoglycemia and seizures at age 2 years and was ultimately diagnosed with PAI (isolated glucocorticoid deficiency). Brain MRI showed abnormalities in the basal ganglia consistent with a degenerative process albeit the patient had no neurologic symptoms.
conclusionsNew genetic causes of PAI continue to be identified. We suggest that screening for SGPL1 mutations should not be reserved only for patients with nephrotic syndrome but may also include patients with PAI who lack other clinical manifestations of NPHS14 because, in certain cases, kidney disease and accompanying features might develop. Timely diagnosis of this specific sphingolipidosis while the kidneys still function normally can lead to prompt initiation of therapy and improve outcome.
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