Visit Metagene.de!
Summary
HYPERINSULINEMIC HYPOGLYCEMIA, TRANSIENT OR PERMANENT DD
Transient and permanent causes of hyperinsulinaemic hypoglycaemia (HH) - (adapted from Demirbilek H and Hussain K 2017)

Transient causes of HH
ÔÇó-á-á-á Infants od diabetic mothrers (maternal diabetes mellitus (gestational and insulin-dependent)
ÔÇó-á-á -áIntrauterine growth restriction (SGA)
ÔÇó-á-á -áPerinatal asphyxia
ÔÇó-á-á -áSepsis (neonatal)
ÔÇó-á-á -áRhesus isoimmunisation
ÔÇó-á-á -áHNF4A, HNF1A mutations

Genetic causes of HH
Mutations in the genes encoding KATP channel proteins SUR1 and Kir6.2
ÔÇó-á-á-á ABCC8
ÔÇó-á-á-á KCNJ11
Mutation in the genes involved in the regulation of insulin secretion
ÔÇó-á-á-á GLUD1
ÔÇó-á-á-á HADH
ÔÇó-á-á-á GCK
ÔÇó-á-á-á SLC16A1
ÔÇó-á-á-á HNF1A
ÔÇó-á-á-á HNF4A
Recently described gene mutations
ÔÇó-á-á-á UCP2
ÔÇó-á-á-á HK1
ÔÇó-á-á-á PGM1
ÔÇó-á-á-á PMM2
ÔÇó-á-á-á FOXA2
ÔÇó-á-á-á CACNA1D

Metabolic causes of HH
ÔÇó-á-á-á Congenital disorders of glycosylation (CGD type 1a, 1b and 1d)
ÔÇó-á-á-á Tyrosinaemia type 1

Other syndromes associated with HH
ÔÇó-á-á-á Beckwith-Wiedemann syndrome
ÔÇó-á-á-á KabukiÔÇÖs syndrome
ÔÇó-á-á-á Trisomy 13
ÔÇó-á-á-á Central hypoventilation syndrome
ÔÇó-á-á-á Leprechaunism (insulin resistance syndrome)
ÔÇó-á-á-á Mosaic Turner syndrome
ÔÇó-á-á-á Sotos syndrome
ÔÇó-á-á-á Usher syndrome
ÔÇó-á-á-á Timothy syndrome
ÔÇó-á-á-á Costello syndrome
ÔÇó-á-á-á Miscellaneous causes of HH
ÔÇó-á-á-á Postprandial HH
ÔÇó-á-á-á Insulin gene receptor mutation
ÔÇó-á-á-á Dumping syndrome
ÔÇó-á-á-á Noninsulinoma pancreatogenous hypoglycaemia syndrome (adults)
ÔÇó-á-á-á Insulin autoimmune syndrome (mostly adults)
ÔÇó-á-á-á Bariatric surgery (adults)
ÔÇó-á-á-á Insulinoma (adults)
ÔÇó-á-á-á Non-islet cell tumour hypoglycaemia (adults)
ÔÇó-á-á-á Factitious hypoglycaemia
ÔÇó-á-á-á Drug-induced
ÔÇó-á-á-á ...
symptoms
hyperinsulinism
hypoglycemia
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
laboratory finding
D-Glucose0.002.90 mmol/mol Creaurine
Glucose/Insuline ratiourine
Literature
Baeck M1Leukotrienes: potential therapeutic targets in cardiovascular diseasesBull Acad Natl Med19071511-15182006
Wenger DA,Rafi MA, Luzi PKrabbe disease: One Hundred years from the bedside to the bench to the bedsideJ Neurosci Res9411982-9892016
Mayatepek E,et al.A patient with neurological symptoms and abnormal leukotriene metabolism: a new defect in leukotriene biosynthesisAnn Neurol586968-9702005
Jaervelae I,Torniainen S, Kolho KLMolecular genetics of human lactase deficienciesAnn Med418568-5752009
Vandenplas YLactose intoleranceAsia Pac J Clin Nutr10S9-132015
Kim J,et al.Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy?Cornea3591250-12542016
Gopalakrishnan N,et al.Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney DiseaseJ Assoc Physicians India641090-912016
Najafian B,et al.AJKD Atlas of Renal Pathology: Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency.Am J Kidney Dis701e5-62017
Wenger DAKrabbe DiseaseGeneReviews-« Internet002011
Fu R,Chen CJ, Jinnah HAGenotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.Mol Genet Metab1124280-2852014
Bargiela D,Chinnery PFMitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MSNeurosci Lett002017
Jankauskaite E,Bartnik E, Kodron AInvestigating Lebers hereditary optic neuropathy: Cell models and future perspectivesMitochondrion32019-262017
Mayatepek E,Zelezny R, Hoffmann GFAnalysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiencyClin Chim Acta2921155-1622000
Fu R,et al.A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasiaMedicine (Baltimore)9621e69942017
Rosenberg JB,et al.Gene therapy for metachromatic leukodystrophyJ Neurosci Res64111169-11792016
Escolar ML,et alClinical management of Krabbe diseaseJ Neurosci Res94111118-11252016
Vandenplas YLactose intoleranceAsia Pac J Clin Nutr10S9-132015
Nyhan WL,et al.Lesch-Nyhan SyndromeSource GeneReviews-« Internet002014
Finsterer J,Zarrouk-Mahjoub SLebers hereditary optic neuropathy is multiorgan not mono-organClin Ophthalmol1002187-21902016
Mackey DA,Kearns LS, Hewitt AWGene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?Asia Pac J Ophthalmol (Phila)54253-2542016
Jaervelae I,Torniainen S, Kolho KLMolecular genetics of human lactase deficienciesAnn Med418568-5752009