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  1 / 2028 MEDLINE  
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[PMID]:28453664
[Au] Autor:Krag TO; Ruiz-Ruiz C; Vissing J
[Ad] Endereço:Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
[Ti] Título:Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
[So] Source:J Clin Endocrinol Metab;102(8):2690-2700, 2017 Aug 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Glycogen storage disease (GSD) type XV is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. Nonetheless, glycogen is present in muscles of glycogenin 1-deficient patients, suggesting an alternative for glycogen buildup. A likely candidate is glycogenin 2, an isoform expressed in the liver and heart but not in healthy skeletal muscle. Objective: We wanted to investigate the formation of glycogen and changes in glycogen metabolism in patients with GSD type XV. Design, Setting, and Patients: Two patients with mutations in the GYG1 gene were investigated for histopathology, ultrastructure, and expression of proteins involved in glycogen synthesis and metabolism. Results: Apart from occurrence of polyglucosan (PG) bodies in few fibers, glycogen appeared normal in most cells, and the concentration was normal in patients with GSD type XV. We found that glycogenin 1 was absent, but glycogenin 2 was present in the patients, whereas the opposite was the case in healthy controls. Electron microscopy revealed that glycogen was present between and not inside myofibrils in type II fibers, compromising the ultrastructure of these fibers, and only type I fibers contained PG bodies. We also found significant changes to the expression levels of several enzymes directly involved in glycogen and glucose metabolism. Conclusions: To our knowledge, this is the first report demonstrating expression of glycogenin 2 in glycogenin 1-deficient patients, suggesting that glycogenin 2 rescues the formation of glycogen in patients with glycogenin 1 deficiency.
[Mh] Termos MeSH primário: Glucosiltransferases/genética
Glucosiltransferases/metabolismo
Glicogênio/biossíntese
Glicoproteínas/genética
Músculo Esquelético/metabolismo
[Mh] Termos MeSH secundário: Idoso
Metabolismo dos Carboidratos
Estudos de Casos e Controles
Feminino
Glucanos/metabolismo
Glucose/metabolismo
Glicogênio/metabolismo
Glicogênio/ultraestrutura
Doença de Depósito de Glicogênio/genética
Glicoproteínas/metabolismo
Seres Humanos
Microscopia Eletrônica
Meia-Idade
Fibras Musculares de Contração Rápida/ultraestrutura
Músculo Esquelético/patologia
Músculo Esquelético/ultraestrutura
Miofibrilas/ultraestrutura
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glucans); 0 (Glycoproteins); 0 (glycogenin); 9005-79-2 (Glycogen); 9012-72-0 (polyglucosan); EC 2.4.1.- (Glucosyltransferases); EC 2.4.1.186 (GYG2 protein, human); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00399


  2 / 2028 MEDLINE  
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[PMID]:28827282
[Au] Autor:Solmesky LJ; Khazanov N; Senderowitz H; Wang P; Minassian BA; Ferreira IM; Yue WW; Lossos A; Weil M; Kakhlon O
[Ad] Endereço:Cell Screening Facility for Personalized Medicine, Department of Cell Research and Immunology, The George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
[Ti] Título:A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.
[So] Source:Biochem J;474(20):3403-3420, 2017 Sep 28.
[Is] ISSN:1470-8728
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Glycogen storage disorders (GSDs) are caused by excessive accumulation of glycogen. Some GSDs [adult polyglucosan (PG) body disease (APBD), and Tarui and Lafora diseases] are caused by intracellular accumulation of insoluble inclusions, called PG bodies (PBs), which are chiefly composed of malconstructed glycogen. We developed an APBD patient skin fibroblast cell-based assay for PB identification, where the bodies are identified as amylase-resistant periodic acid-Schiff's-stained structures, and quantified. We screened the DIVERSet CL 10 084 compound library using this assay in high-throughput format and discovered 11 dose-dependent and 8 non-dose-dependent PB-reducing hits. Approximately 70% of the hits appear to act through reducing glycogen synthase (GS) activity, which can elongate glycogen chains and presumably promote PB generation. Some of these GS inhibiting hits were also computationally predicted to be similar to drugs interacting with the GS activator protein phosphatase 1. Our work paves the way to discovering medications for the treatment of PB-involving GSD, which are extremely severe or fatal disorders.
[Mh] Termos MeSH primário: Fibroblastos/enzimologia
Doença de Depósito de Glicogênio
Glicogênio Sintase/metabolismo
Doenças do Sistema Nervoso
[Mh] Termos MeSH secundário: Adulto
Avaliação Pré-Clínica de Medicamentos/métodos
Feminino
Doença de Depósito de Glicogênio/diagnóstico
Doença de Depósito de Glicogênio/tratamento farmacológico
Doença de Depósito de Glicogênio/enzimologia
Seres Humanos
Masculino
Doenças do Sistema Nervoso/diagnóstico
Doenças do Sistema Nervoso/tratamento farmacológico
Doenças do Sistema Nervoso/enzimologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.1.11 (Glycogen Synthase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170823
[St] Status:MEDLINE
[do] DOI:10.1042/BCJ20170469


  3 / 2028 MEDLINE  
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[PMID]:28659124
[Au] Autor:Allegrini D; Penco S; Pece A; Autelitano A; Montesano G; Paci S; Montanari C; Maver A; Peterlin B; Damante G; Rossetti L
[Ad] Endereço:Eye Unit, Humanitas Gavazzeni Hospital, Humanitas University, Bergamo, Italy. davideallegrini@yahoo.it.
[Ti] Título:Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.
[So] Source:BMC Ophthalmol;17(1):107, 2017 Jun 28.
[Is] ISSN:1471-2415
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects. CONCLUSIONS: This is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway.
[Mh] Termos MeSH primário: Catarata/etiologia
Síndrome de DiGeorge/complicações
Doença de Depósito de Glicogênio/complicações
Drusas do Disco Óptico/etiologia
Campos Visuais
[Mh] Termos MeSH secundário: Adulto
Catarata/diagnóstico
Hibridização Genômica Comparativa
Síndrome de DiGeorge/diagnóstico
Feminino
Doença de Depósito de Glicogênio/diagnóstico
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Drusas do Disco Óptico/diagnóstico
Tomografia de Coerência Óptica
Acuidade Visual
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170630
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-017-0499-y


  4 / 2028 MEDLINE  
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[PMID]:28627441
[Au] Autor:Zhang J; Yuan Y; Ma M; Liu Y; Zhang W; Yao F; Qiu Z
[Ad] Endereço:Department of Pediatrics, Peking University International Hospital, Beijing 102206, China.
[Ti] Título:Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
[So] Source:Gene;627:149-156, 2017 Sep 05.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research. In conclusion, glycogen storage disease type IXa is a mild disorder with a favorable prognosis, and there was no relationship between genotype and phenotype of this disease.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio/genética
Doença de Depósito de Glicogênio/fisiopatologia
Fosforilase Quinase/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
China
Análise Mutacional de DNA
Seres Humanos
Fígado/fisiopatologia
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.1.19 (PHKA2 protein, human); EC 2.7.1.19 (Phosphorylase Kinase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE


  5 / 2028 MEDLINE  
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[PMID]:28482395
[Au] Autor:Guo HM; Zheng BX; Li M
[Ti] Título:[One case of X-linked recessive glycogen storage disease type IXa].
[So] Source:Zhonghua Er Ke Za Zhi;55(5):392-393, 2017 May 04.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Cromossomos Humanos X
Doença de Depósito de Glicogênio
[Mh] Termos MeSH secundário: Cromossomos Humanos X/genética
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170509
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.05.018


  6 / 2028 MEDLINE  
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[PMID]:28400468
[Au] Autor:Hogrel JY; Janssen JBE; Ledoux I; Ollivier G; Béhin A; Stojkovic T; Eymard B; Voermans NC; Laforet P
[Ad] Endereço:Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
[Ti] Título:The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.
[So] Source:J Clin Pathol;70(10):896-898, 2017 Oct.
[Is] ISSN:1472-4146
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: The non-ischaemic forearm exercise test (NIFET) is used as a diagnostic tool for the screening of patients with exercise intolerance and for the diagnosis of various metabolic muscle disorders. The production of lactate and ammonia are generally analysed to guide the diagnosis. The aim of this retrospective study was to determine the level of ammonia rise, which can be suggestive of a muscle disease. METHODS: This retrospective study involved 1440 patients who underwent NIFET. The clinical files of the patients with hyperammonaemia were methodically studied. Normal values were derived from 60 healthy controls. RESULTS: 110 patients with hyperammonaemia were detected. They were classified as either having mild (between 94 and 141 µmol/L) or severe (more than 141 µmol/L) hyperammonaemia. Their diagnosis was studied with respect to the increase in lactate induced by the NIFET. CONCLUSIONS: Severe postexercise hyperammonaemia, even in the presence of a normal lactate response, is strongly suggestive of a muscle glycogen storage disease. Mild hyperammonaemia in the absence of other abnormalities is most likely non-specific and not indicative of a muscle disease.
[Mh] Termos MeSH primário: Teste de Esforço/métodos
Doença de Depósito de Glicogênio/diagnóstico
Hiperamonemia/etiologia
Doenças Musculares/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Feminino
Antebraço
Força da Mão
Seres Humanos
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170413
[St] Status:MEDLINE
[do] DOI:10.1136/jclinpath-2017-204324


  7 / 2028 MEDLINE  
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[PMID]:28245189
[Au] Autor:Kasapkara ÇS; Aycan Z; Açoglu E; Senel S; Oguz MM; Ceylaner S
[Ad] Endereço:Department of Pediatric Metabolism and Nutrition, Dr Sami Ulus Child Hospital, Ankara.
[Ti] Título:The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
[So] Source:J Pediatr Endocrinol Metab;30(4):459-462, 2017 Apr 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the GYS2 gene, which is transmitted in an autosomal recessive trait. It is a rare form of hepatic glycogen storage disease with less than 30 cases reported in the literature so far. The disorder is characterized by fasting hyperketotic hypoglycemia without hyperalaninemia or hyperlactacidemia. It is a glycogenosis with lack of liver glycogen synthesis, therefore hepatomegaly is not observed in patients with glycogen synthase deficiency. Symptoms of fasting hypoglycemia in patients with glycogen storage disease type 0 (GSD0) usually appear for the first time in late infancy when weaning from overnight feeds. Seizures associated with low blood glucose may also occur, but they are rare. Clinical management is therefore based on frequent meals composed of high protein intake during the day and addition of uncooked cornstarch in the evening. CASE PRESENTATION: Herein we report three new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the 4 years of age with recurrent hypoglycemic seizures. The second patient who is the brother of the first patient presented at 15 months with asymptomatic incidental hypoglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia and lactic acidemia. A third patient was consulted for ketotic hypoglycemia and postprandial hyperglycemia at the 5 years of age. CONCLUSIONS: Genetic analyses of the siblings revealed homozygosity for mutation c.736C>T on the GYS2 gene confirming the diagnosis. The third patient was found to be homozygous for c.1145G>A. GSD0 is more common than previously assumed. Recognition of the variable phenotypic spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio/diagnóstico
Glicogênio Sintase/deficiência
Fígado/enzimologia
Mutação/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Doença de Depósito de Glicogênio/enzimologia
Doença de Depósito de Glicogênio/genética
Glicogênio Sintase/genética
Seres Humanos
Lactente
Masculino
Fenótipo
Prognóstico
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
EC 2.4.1.11 (Glycogen Synthase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170301
[St] Status:MEDLINE


  8 / 2028 MEDLINE  
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[PMID]:28242437
[Au] Autor:Stanik J; Skopkova M; Brennerova K; Danis D; Rosolankova M; Salingova A; Bzduch V; Klimes I; Gasperikova D
[Ad] Endereço:First Department of Pediatrics, Medical Faculty of Comenius University and Children Faculty Hospital, Limbova 1, 833 40 Bratislava, Slovakia; DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Dubravska cesta 9, 845 05 Bratislava, Slovakia.
[Ti] Título:Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
[So] Source:Diabetes Res Clin Pract;126:144-150, 2017 Apr.
[Is] ISSN:1872-8227
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:AIM: Congenital hyperinsulinism (CHI) and glycogen storage disease (glycogenosis) are both causing hypoglycemia during infancy, but with different additional clinical features and therapeutic approach. We aimed to identify a genetic cause in a child with an ambiguous phenotype. METHODS AND RESULTS: We present a child with hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum levels, increased level of glycogen in erythrocytes, increased liver transaminases, and increased echogenicity on liver ultrasonography. As both parents of the proband were referred as healthy, we raised a clinical suspicion on glycogenosis with recessive inheritance. However, whole exome sequencing revealed no mutation in genes causing glycogenosis, but a novel heterozygous variant LRG_483t1: c.427-1G>A in the HNF4A gene was identified. Aberrant splicing resulting in in-frame deletion c.429_476del, p.(T144_I159del) was confirmed by sequencing of HNF4A transcripts reverse-transcribed from whole blood RNA. The same variant was found in five of eight tested family relatives (one of them already had diabetes, two had prediabetes). With regard to the results of DNA analysis, we added diazoxide to the therapy. Consequently, the frequency and severity of hypoglycemia in the proband decreased. We have also recommended sulfonylurea treatment after diabetes onset in adult mutation carriers. CONCLUSIONS: We have identified a novel HNF4A gene mutation in our patient with CHI and glycogenosis-like phenotype. The proband and her family members benefited from the genetic testing by WES method and consequently personalized therapy. Nevertheless, the HNF4A gene testing may be considered in selected CHI cases with glycogenosis-like phenotype prior WES analysis.
[Mh] Termos MeSH primário: Hiperinsulinismo Congênito/genética
Doença de Depósito de Glicogênio/genética
Fator 4 Nuclear de Hepatócito/genética
[Mh] Termos MeSH secundário: Adulto
Criança
Feminino
Genótipo
Heterozigoto
Seres Humanos
Masculino
Mutação
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hepatocyte Nuclear Factor 4)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170606
[Lr] Data última revisão:
170606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170301
[St] Status:MEDLINE


  9 / 2028 MEDLINE  
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[PMID]:28117557
[Au] Autor:Stiers KM; Graham AC; Kain BN; Beamer LJ
[Ad] Endereço:Biochemistry Department, University of Missouri, Columbia, MO, USA.
[Ti] Título:Asp263 missense variants perturb the active site of human phosphoglucomutase 1.
[So] Source:FEBS J;284(6):937-947, 2017 Mar.
[Is] ISSN:1742-4658
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The enzyme phosphoglucomutase 1 (PGM1) plays a central role in glucose homeostasis. Clinical studies have identified mutations in human PGM1 as the cause of PGM1 deficiency, an inherited metabolic disease. One residue, Asp263, has two known variants associated with disease: D263G and D263Y. Biochemical studies have shown that these mutants are soluble and well folded, but have significant catalytic impairment. To better understand this catalytic defect, we determined crystal structures of these two missense variants, both of which reveal a similar and indirect structural change due to the loss of a conserved salt bridge between Asp263 and Arg293. The arginine reorients into the active site, making interactions with residues responsible for substrate binding. Biochemical studies also show that the catalytic phosphoserine of the missense variants is more stable to hydrolysis relative to wild-type enzyme. The structural perturbation resulting from mutation of this single amino acid reveals the molecular mechanism underlying PGM1 deficiency in these missense variants. DATABASE: Structural data are available in the PDB under the accession numbers 5JN5 and 5TR2.
[Mh] Termos MeSH primário: Glucose/metabolismo
Doença de Depósito de Glicogênio/genética
Fosfoglucomutase/química
Conformação Proteica
[Mh] Termos MeSH secundário: Arginina/genética
Asparagina/genética
Sítios de Ligação
Catálise
Domínio Catalítico
Cristalografia por Raios X
Glucose/química
Doença de Depósito de Glicogênio/metabolismo
Seres Humanos
Cinética
Mutação de Sentido Incorreto
Fosfoglucomutase/genética
Ligação Proteica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
7006-34-0 (Asparagine); 94ZLA3W45F (Arginine); EC 5.4.2.2 (PGM1 protein, human); EC 5.4.2.2 (Phosphoglucomutase); IY9XDZ35W2 (Glucose)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170704
[Lr] Data última revisão:
170704
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170125
[St] Status:MEDLINE
[do] DOI:10.1111/febs.14025


  10 / 2028 MEDLINE  
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[PMID]:28085675
[Au] Autor:Hodax JK; Uysal S; Quintos JB; Phornphutkul C
[Ti] Título:Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.
[So] Source:J Pediatr Endocrinol Metab;30(2):247-251, 2017 Feb 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Glycogen storage disease (GSD) type IX and growth hormone (GH) deficiency cause ketotic hypoglycemia via different mechanisms and are not known to be associated. We describe a patient presenting with severe ketotic hypoglycemia found to have both GSD IX and isolated GH deficiency. CASE PRESENTATION: A 3-year-and-11-month-old boy with a history of prematurity, autism, developmental delay, seizures, and feeding difficulty was admitted for poor weight gain and symptomatic hypoglycemia. He was nondysmorphic, with a height of 93.8 cm (2%, -1.97 SDS), and has no hepatomegaly. He developed symptomatic hypoglycemia, with a serum glucose level of 37 mg/dL after 14 h of fasting challenge. Critical sample showed a GH of 0.24 ng/mL. GH provocative stimulation testing was done with a peak GH of 2.8 ng/mL. Brain magnetic resonance imaging showed a hypoplastic pituitary gland. Given the clinical symptoms, suspicion for mitochondrial disease was high. Dual Genome Panel by Massively Parallel Sequencing revealed a hemizygous variant c.721A>G (p1241V) in the X-linked PHKA2 gene, a causative gene for GSD IX. Red blood cell PhK enzyme activity testing was low, supporting the diagnosis. CONCLUSIONS: Given the patient's developmental delays that were not explained by GH deficiency alone, further investigation showed two unrelated conditions resulting in deranged metabolic adaptation to fasting leading to severe hypoglycemia.
[Mh] Termos MeSH primário: Doença de Depósito de Glicogênio/diagnóstico
Transtornos do Crescimento/diagnóstico
Hormônio do Crescimento Humano/deficiência
Hipoglicemia/diagnóstico
[Mh] Termos MeSH secundário: Pré-Escolar
Diagnóstico Diferencial
Doença de Depósito de Glicogênio/complicações
Transtornos do Crescimento/complicações
Seres Humanos
Hipoglicemia/complicações
Masculino
Prognóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
12629-01-5 (Human Growth Hormone)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170614
[Lr] Data última revisão:
170614
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170114
[St] Status:MEDLINE



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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde