Cited by 239Pancreatic function and diabetesDiabetes and associated disordersMetabolism and Genetic Disorders

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Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

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Stanley, Charles A.·2016·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2015-3651PMC PMC4803157

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Abstract

CONTEXT: Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children. The risk of permanent brain injury in infants with HI continues to be as high as 25-50% due to delays in diagnosis and inadequate treatment. Congenital HI has been described since the birth of the JCEM under various terms, including "idiopathic hypoglycemia of infancy," "leucine-sensitive hypoglycemia," or "nesidioblastosis." EVIDENCE ACQUISITION: In the past 20 years, it has become apparent that HI is caused by genetic defects in the pathways that regulate pancreatic β-cell insulin secretion. EVIDENCE SYNTHESIS: There are now 11 genes associated with monogenic forms of HI (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1), as well as several syndromic genetic forms of HI (eg, Beckwith-Wiedemann, Kabuki, and Turner syndromes). HI is also the cause of hypoglycemia in transitional neonatal hypoglycemia and in persistent hypoglycemia in various groups of high-risk neonates (such as birth asphyxia, small for gestational age birthweight, infant of diabetic mother). Management of HI is one of the most difficult problems faced by pediatric endocrinologists and frequently requires difficult choices, such as near-total pancreatectomy and/or highly intensive care with continuous tube feedings. For 50 years, diazoxide, a KATP channel agonist, has been the primary drug for infants with HI; however, it is ineffective in most cases with mutations of ABCC8 or KCNJ11, which constitute the majority of infants with monogenic HI. CONCLUSIONS: Genetic mutation testing has become standard of care for infants with HI and has proven to be useful not only in projecting prognosis and family counseling, but also in diagnosing infants with surgically curable focal HI lesions. (18)F-fluoro-L-dihydroxyphenylalanine ((18)F-DOPA) PET scans have been found to be highly accurate for localizing such focal lesions preoperatively. New drugs under investigation provide hope for improving the outcomes of children with HI.

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BackgroundInfluential
Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia
Dieterle, M. P., Husari, A., Prozmann, S. N., Wiethoff, H., Stenzinger, A., Röhrich, M., Pfeiffer, U., Kießling, W. R., Engel, H., Sourij, H., et al. (2023) · Biomedicines · doi:10.3390/biomedicines11061732 · Cited by 19
“CHI/PHH is usually caused by well-known mutations in various genes associated with insulin secretion, and clinical symptoms appear within the first weeks or months after birth [10].”
Background
Advances in Understanding the Mechanism of Transitional Neonatal Hypoglycemia and Implications for Management
Stanescu, D. L., & Stanley, C. A. (2022) · Clinics in Perinatology · doi:10.1016/j.clp.2021.11.007 · Cited by 19
Self-citation
Pathological features in non-neoplastic congenital and adult hyperinsulinism: from nesidioblastosis to current terminology and understanding
Sempoux, C. L., & Klöppel, G. (2023) · Endocrine Related Cancer · doi:10.1530/erc-23-0034 · Cited by 18
Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia
Hoermann, H., El‐Rifai, O., Schebek, M., Lodefalk, M., Brusgaard, K., Bachmann, N., Bergmann, C., Roeper, M., Welters, A., Dafsari, R. S., et al. (2020) · Clinical Endocrinology · doi:10.1111/cen.14267 · Cited by 18
Clustering of Hypoglycemia Events in Patients With Hyperinsulinism: Extension of the Digital Phenotype Through Retrospective Data Analysis
Worth, C., Harper, S., Salomon‐Estebanez, M., O’Shea, E., Nutter, P. W., Dunne, M. J., & Banerjee, I. (2021) · Journal of Medical Internet Research · doi:10.2196/26957 · Cited by 18
“Increased knowledge of changes at the organic [7], cellular [8], and genetic [9,10] levels has led to improvements in the care of these patients, and recent studies even suggest a lowering of the subsequent rate of brain injury [11].”
Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase‐activating mutations: A report of two cases and a brief overview of the literature
Ping, F., Wang, Z., & Xiao, X. (2019) · Journal of Diabetes Investigation · doi:10.1111/jdi.13072 · Cited by 17
Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia.
Gutgold, A., Gross, D. J., Gläser, B., & Szalat, A. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-3254 · Cited by 17
Population pharmacokinetics of exendin‐(9‐39) and clinical dose selection in patients with congenital hyperinsulinism
Ng, C. M., Tang, F., Seeholzer, S. H., Zou, Y., & León, D. D. D. (2017) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.13463 · Cited by 17
Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism
Raskin, J., Pasquini, T. L. S., Bose, S., Tallis, D., & Schmitt, J. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.886552 · Cited by 16
“The aim of this paper is (1) to describe the current challenges of living with HI including diagnosis and disease management told from the perspective of people living with the condition, (2) to provide family stories of life with HI, and (3) to share how a rare disease patient organization, Congenital Hyperinsulinism…”
Background
The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia
Dastamani, A., Güemes, M., Pitfield, C., Morgan, K., Rajab, M. H., Rottenburger, C., Bomanji, J. B., Coppi, P. D., Dattani, M., & Shah, P. (2018) · Hormone Research in Paediatrics · doi:10.1159/000491101 · Cited by 16
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome
Welters, A., El‐Khairi, R., Dastamani, A., Bachmann, N., Bergmann, C., Gilbert, C., Clement, E. M., Hurst, J. A., Quercia, N. L., Wasserman, J. D., et al. (2019) · European Journal of Endocrinology · doi:10.1530/eje-19-0119 · Cited by 16
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation
Staník, J., Škopková, M., Brennerová, K., Daniš, D., Rosoľanková, M., Šalingová, A., Bzdúch, V., Klimeś, I., & Gašperíková, D. (2017) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2017.02.014 · Cited by 15
“Gasperikova, Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation, Diabetes Research and Clinical Practice (2017), doi: http://dx.”
Background
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism
Bendix, J., Laursen, M. G., Mortensen, M. B., Melikyan, M. A., Globa, E., Detlefsen, S., Rasmussen, L. M., Petersen, H., Brusgaard, K., & Christesen, H. T. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00478 · Cited by 15
“Frontiers in Endocrinology | www.frontiersin.org 3 August 2018 | Volume 9 | Article 478 All patients with focal CHI had a heterozygous paternal KATP-channel mutation, ABCC8; n = 23 (96%), KCNJ11; n = 1 (Table 2).”
BackgroundInfluential
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions
Craigie, R., Salomon‐Estebanez, M., Yau, D., Han, B., Mal, W., Newbould, M. J., Cheesman, E., Bitetti, S., Mohamed, Z., Sajjan, R. S., et al. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00619 · Cited by 15
The difficult management of persistent, non‐focal congenital hyperinsulinism: A retrospective review from a single, tertiary center
Rasmussen, A. G., Melikyan, M. A., Globa, E., Detlefsen, S., Rasmussen, L. M., Petersen, H., Brusgaard, K., Rasmussen, A. H., Mortensen, M. B., & Christesen, H. T. (2020) · Pediatric Diabetes · doi:10.1111/pedi.12989 · Cited by 15
“Median (range), days 3 (1-270) 49 (1-270) 1 (1-120) .”
Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
Giri, D., Patil, P., Hart, R. L. D., Didi, M., & Senniappan, S. (2017) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-16-0125 · Cited by 15
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years
Morishita, K., Kyo, C., Yonemoto, T., Kosugi, R., Ogawa, T., & Inoue, T. (2017) · Case Reports in Endocrinology · doi:10.1155/2017/4709262 · Cited by 16
“Recent developments in gene analyses of CHI-related hypoglycemia have provided detailed information on each mutation detected [1].”
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome
Kostopoulou, E., Dastamani, A., Caiulo, S., Antell, H., Flanagan, S. E., & Shah, P. (2019) · Clinical Endocrinology · doi:10.1111/cen.13951 · Cited by 14
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum‐Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., et al. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.02.004 · Cited by 14
“Non-syndromal CHI is most frequently caused by mutations of the KATP-channel genes ABCC8 or KCNJ11, which are situated on 11p15 (Stanley, 2016).”
Background
Higher C-peptide levels and glucose requirements may identify neonates with transient hyperinsulinism hypoglycemia who will benefit from diazoxide treatment
Davidov, A. S., Elkon‐Tamir, E., Haham, A., Shefer, G., Weintrob, N., Oren, A., Lebenthal, Y., Mandel, D., & Eyal, O. (2019) · European Journal of Pediatrics · doi:10.1007/s00431-019-03544-z · Cited by 13
Endocrine Diseases and Disorders of Thyroid Function in Newborns
Ghirri, P., Balsamo, A., Ciantelli, M., Cavarzere, P., Cicognani, A., Boldrini, A., & Cassio, A. (2018) · Springer eBooks · doi:10.1007/978-3-319-29489-6_259 · Cited by 13
Congenital hyperinsulinism due to mutations in HNF1A
Yau, D., Colclough, K., Natarajan, A., Parikh, R., Canham, N. L. E., Didi, M., Senniappan, S., & Banerjee, I. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.103928 · Cited by 13
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism
Tosur, M., & Jeha, G. S. (2017) · Global Pediatric Health · doi:10.1177/2333794x17703462 · Cited by 12
“To date, mutations have been identified in 11 genes with one of them being SLC16A1, encoding monocarboxylate transporter-1 (MCT-1).(1) MCT-1 is a transporter protein regulating the transport of lactate and pyruvate, which are potent insulin secratogogs in β cells.”
Background
Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience
Laimon, W. N., Aboelenin, H. M., & Tantawi, N. T. E. (2021) · Pediatric Diabetes · doi:10.1111/pedi.13186 · Cited by 12
“However, it is curable in 97% of cases by resection of the focal pancreatic lesion.(4) On the other hand, diffuse CHI is often due to homozygous, compound heterozygous or heterozygous ABBC8/KCNJ11 mutations, with many patients responding to medical treatment.”
Background
Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene
Ding, Y., Li, N., Chang, G., Li, J., Yao, R., Shen, Y., Wang, J., Huang, X., & Wang, X. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0551 · Cited by 12
“However, hypoglycemia with relative hyperinsulinism was reported in some cases, caused by abnormal protein glycosylation [14, 15].”
Background
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients
Su, C., Liang, X., Li, W., Wu, D., Liu, M., Cao, B., Chen, J., Qin, M., Meng, X., & Gong, C. (2018) · Journal of Diabetes Research · doi:10.1155/2018/2802540 · Cited by 12
“The main clinical manifestations and genetic characteristics of the Chinese patients in this cohort are the same as those documented in other studies [15, 17, 19].”
Result
Characterization of the duration of treatment with diazoxide in infants with prolonged hyperinsulinism (PHI)
Raisingani, M. G., & Brar, P. C. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0066 · Cited by 12
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
Salguero, M. V., Chan, K., Greeley, S. A. W., Dyamenahalli, U., Waggoner, D., del Gaudio, D., Rajiyah, T., & Lemelman, M. B. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac015 · Cited by 12
“Diazoxide works by binding to the sulfonylurea receptor 1 subunit of the adenosine 5′-triphosphate–sensitive potassium (KATP) channel to keep it open, preventing insulin secretion from the pancreatic beta cell [4].”
BackgroundInfluential
Efficacy and safety of octreotide treatment for diazoxide‐unresponsive congenital hyperinsulinism in China
Cao, B., Di, W., Su, C., Chen, J., Liang, X., Liu, M., Liu, W., Li, X., & Gong, C. (2020) · Pediatric Investigation · doi:10.1002/ped4.12175 · Cited by 11
Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.
Sharma, R., Roy, K., Satapathy, A. K., Kumar, A., Nanda, P. M., Damle, N., Houghton, J., Flanagan, S. E., Radha, V., Mohan, V., et al. (2022) · PubMed Central · doi:10.1007/s13312-022-2438-0 · Cited by 4
“Histopathologically, CHI can be categorized into diffuse or focal forms [5,6].”
Background
Exendin-(9-39) Effects on Glucose and Insulin in Children With Congenital Hyperinsulinism During Fasting and During a Meal and a Protein Challenge
Stefanovski, D., Vajravelu, M. E., Givler, S., & León, D. D. D. (2022) · Diabetes Care · doi:10.2337/dc21-2009 · Cited by 11
“HI, but the underlying genetic cause remains unknown in 50% of the cases (1,2).”
BackgroundResult
Delayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism
Worth, C., Hall, C., Wilson, S., Gilligan, N., O’Shea, E., Salomon‐Estebanez, M., Dunne, M. J., & Banerjee, I. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00143 · Cited by 11
“Congenital Hyperinsulinism (CHI) is the most common cause of severe and recurrent hypoglycaemia in childhood with an incidence between 1:2500 and 1:50000 (1).”
Background
Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
Worth, C., Hashmi, L. A., Yau, D., Salomon‐Estebanez, M., Ruiz, D. A. P., Hall, C., O’Shea, E., Stokes, H., Foster, P., Flanagan, S. E., et al. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01438-0 · Cited by 11
“The estimated incidence ranges from 1:2500 to 1:50,000 with higher rates among consanguineous populations [1, 2].”
Background
Nesidioblastosis Associated with Pancreatic Heterotopia as a Differential Diagnosis of Hypoglycemia: A Literature Review and Case Report
Lopes, A. A., Miranda, A. C. G., Maior, M. D. R. M. S., de Mello, R. V., & Bandeira, F. A. F. (2020) · American Journal of Case Reports · doi:10.12659/ajcr.922778 · Cited by 11
“found sensitivity higher than 97% in 45 patients with PHH with 68GaPET/CT [19], as well as high sensitivity in adult nesidioblastosis and congenital hyperinsulinism [10].”
Background
Invaluable Role of Consanguinity in Providing Insight into Paediatric Endocrine Conditions: Lessons Learnt from Congenital Hyperinsulinism, Monogenic Diabetes, and Short Stature
Amaratunga, S. A., Tayeb, T. H., Dušátková, P., Průhová, Š., & Lebl, J. (2021) · Hormone Research in Paediatrics · doi:10.1159/000521210 · Cited by 11
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia
Macián, F. M., Mingo, C. D., Cariñena, S. L., López, P. O., Felix, D. R., Navarro, M. A., Martínez-Matilla, M., Gay, C. C., Martı́nez, F., & Mesado, V. A. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0168 · Cited by 11
Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai
Cai, X., Genchev, G. Z., He, P., Lu, H. J., & Yu, G. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01830-4 · Cited by 10
“This finding provides further support to the notion of the potential role of X-linkage in the etiology of congenital hyperinsulinemic hypoglycemia [14, 15].”
Result
Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability
Butnariu, L. I., Bizim, D. A., Păduraru, G., Păduraru, L., Moisă, Ș. M., Popa, S., Gimiga, N., Ghiga, G., Bădescu, M. C., Lupu, A., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25105533 · Cited by 10
“K ATP -channel inactivating mutations in ABCC8 associated with mutations in the KCNJ11 gene cause 97% of cases of diazoxide-unresponsive hyperinsulinism [40,41].”
Background
A semicentennial of pancreatic pathology: the genetic revolution is here, but don’t throw the baby out with the bath water!
Hruban, R. H., Klimstra, D. S., Zamboni, G., & Klöppel, G. (2019) · Human Pathology · doi:10.1016/j.humpath.2019.08.024 · Cited by 10
Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
Zeng, Q., & Sang, Y. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02624-6 · Cited by 10
“Parental origin testing should be included when patient testing [26].”
Background
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
Clemente, M., Cobo, P., Antolı́n, M., Campos-Martorell, A., Yeste, D., Tomasini, R., Caimari, M., Masas, M., García‐Arumí, E., Fernández‐Cancio, M., et al. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad280 · Cited by 10
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia
Yoshii, K., Noda, M., Naiki, Y., & Horikawa, R. (2017) · Pediatrics International · doi:10.1111/ped.13245 · Cited by 10
Challenges in management of transient hyperinsulinism – a retrospective analysis of 36 severely affected children
Hoermann, H., Roeper, M., Dafsari, R. S., Koestner, F., Reinauer, C., Mayatepek, E., Meißner, T., & Kummer, S. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0639 · Cited by 10
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects
Kummer, S., Rinné, S., Seemann, G., Bachmann, N., Timothy, K. W., THORNTON, P. S., Pillekamp, F., Mayatepek, E., Bergmann, C., Meißner, T., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23158097 · Cited by 9
“To date, multiple genes have been reported to cause monosymptomatic CHI, and several additional syndromic forms of CHI have been described [11].”
Background
Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism
Hastings, L. A., Preddy, J., McCready, M., Neville, K. A., & Verge, C. F. (2020) · Hormone Research in Paediatrics · doi:10.1159/000507624 · Cited by 9
Continuous Glucose Monitoring–Derived Glycemic Phenotyping of Childhood Hypoglycemia Due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study
Worth, C., Auckburally, S. H., Worthington, S., Ahmad, S. R., O’Shea, E., Senniappan, S., Shaikh, G., Dastamani, A., Ferrara-Cook, C. T., Betz, S. F., et al. (2024) · Journal of Diabetes Science and Technology · doi:10.1177/19322968241255842 · Cited by 8
Hypoglycaemia Metabolic Gene Panel Testing
Maiorana, A., Lepri, F. R., Novelli, A., & Dionisi‐Vici, C. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.826167 · Cited by 8
“Beyond ABCC8 and KCNJ11, mutations in pancreatic genes involved in fatty acid oxidation, energy and aminoacid metabolism and transcription factors give rise to diffuse forms of HI: GCK, GLUD1, HADH, HNA4a, HNF1a, SLC16A1, UCP2, HK1, INSR (13, 14).”
Background

Authors: Stanley, C. A.
Affiliations: Children's Hospital of Philadelphia (US)
Corresponding author: Stanley, Charles A.
ORCID: Stanley, Charles A.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2016-03
Volume: 101
Issue: 3
Pages: 815-826
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2015-3651
PMC: PMC4803157
OpenAlex: W2277559429
Cited by: 239
References: 104
Citations by year: 2026: 14 · 2025: 13 · 2024: 13 · 2023: 13 · 2022: 24 · 2021: 25 · 2020: 36 · 2019: 24 · 2018: 39 · 2017: 25 · 2016: 13
FWCI: 6.67
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Children's Hospital of Philadelphia
National Institutes of Health
National Institute of Diabetes and Digestive and Kidney Diseases (R37DK056268)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital hyperinsulinism, pancreatic beta-cell insulin secretion, ABCC8, KCNJ11, genetic diagnosis, diazoxide, near-total pancreatectomy, 18F-DOPA PET, focal pancreatic lesions, Beckwith-Wiedemann syndrome, Kabuki syndrome, Turner syndrome, neonatal hypoglycemia
MeSH terms: Insulin Secretion, Humans, Infant, Newborn, Insulin, Congenital Hyperinsulinism, KATP Channels

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Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

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