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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HHF1
HHF1 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY PHHI NESIDIOBLASTOSIS OF PANCREAS
256450
OMIM = Online Medalian Inheritance of Men
276575
11p15.1
  • diazoxide
  • glucagon
  • glucose infusion (acute)
  • pancreatectomy, subtotal
  • somatostatin
rare
autosomal dominant
autosomal recessive
mutation in the ABCC8 gene
symptoms
coma
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
increased body hair
increased weight for age, height and sex (>2 SD)
macrosomia
mental retardation
onset, infancy
onset, neonatal
seizures
laboratory finding
Insulin/Glucose0.502.000.100.50mU/l/mg/dlserum
D-Glucose0.201.002.805.00mmol/lserum
Insulin20.0050.003.0023.00mU/lserum
Insulin-like growth factor binding protein-1 (IGFBP-1)6.00122.0087.00895.00ng/mlserum
Free fatty acids 1.101.60lowplasma
3-Hydroxybutyric acid 0.101.00lowplasma
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Ogier de Baulny Het al.Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocaseJ Pediatr1270723-7281995
Walter JHet al.Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 yearsEur J Pediatr Suppl 21570S71-761998
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Br+Âer SLysinuric protein intolerance: one gene, many problemsAm J Physiol Cell Physiol2932C540-5412007
Forest MGFunktionelle Untersuchung der NebenniereEndokrinologische Funktionsdiagnostik im Kindes- und Jugendalter, Hrsg. M.B. Ranke J&J Verlag Mannheim00273-3031993
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Yin X,et al.Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic populationInt J Clin Exp Pathol62267-2722013
Solt+®sz GAynsley-Green ADiagnostische Abkl+ñrung der Hypoglyk+ñmie im KindesalterEndokrinologische Funktionsdiagnostik im Kindes- und Jugendalter, Hrsg. M.B.Ranke J & J Verlag Mannheim00187-2031993
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassart GDumont JE, Refetoff SThyroid disordersThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2932883-29281995
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Matalon Ret al.Biopterin responsive phenylalanine hydroxylase deficiencyGenet Med6127-322004
Albertsson-Wikland KRosberg SMethoden zur Evaluierung der Spontansekretion von Wachtstumhormon.Endokrinologische Funktionsdiagnostik im Kindes- und Jugendalter, Hrsg. M.B.Ranke J&J Verlag Mannheim0087-1151993
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Marescau Bet al.Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapyPediatr Res270297-3031990
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991