Maternal histidinaemia: pregnancies and offspring outcomes.

abstract：:The different long-chain fatty acid oxidation defects present with similar heterogeneous clinical phenotypes of different severity. Organs mainly affected comprise the heart, liver, and skeletal muscles. All symptoms are reversible with sufficient energy supply. In some long-chain fatty acid oxidation defects, disease...

journal_title：Journal of inherited metabolic disease

authors： Spiekerkoetter U

更新日期：2010-10-01 00:00:00

abstract：:Mitochondrial disease is hugely diverse with respect to associated clinical presentations and underlying genetic causes, with pathogenic variants in over 300 disease genes currently described. Approximately half of these have been discovered in the last decade due to the increasingly widespread application of next gen...

journal_title：Journal of inherited metabolic disease

authors： Thompson K,Collier JJ,Glasgow RIC,Robertson FM,Pyle A,Blakely EL,Alston CL,Oláhová M,McFarland R,Taylor RW

更新日期：2020-01-01 00:00:00

abstract：:Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI ...

journal_title：Journal of inherited metabolic disease

authors： Hayasaka K,Narisawa K,Ohura T,Ogawa E,Dahl HH

更新日期：1990-01-01 00:00:00

abstract：:The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known disturbances in the synthesis or catabolism of myelin such as a block in the catabolism of sulphatides and of galactocerebrosides, respectively, in metachromatic leuko...

journal_title：Journal of inherited metabolic disease

authors： Aicardi J

更新日期：1993-01-01 00:00:00

abstract：:The differential diagnosis of patients with apparent congenital lactic acidoses poses one of the most intractable problems in the study of patients with disorders of organic acid metabolism. An outline of the factors leading to a lactic acidosis, particularly in infants and young children, together with a brief review...

journal_title：Journal of inherited metabolic disease

authors： Chalmers RA

更新日期：1984-01-01 00:00:00

abstract：:Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutation...

journal_title：Journal of inherited metabolic disease

authors： Ida H,Rennert OM,Kawame H,Maekawa K,Eto Y

更新日期：1997-03-01 00:00:00

abstract：:Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been ...

journal_title：Journal of inherited metabolic disease

authors： Tümer Z,Horn N

更新日期：1998-08-01 00:00:00

abstract：:Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, s...

journal_title：Journal of inherited metabolic disease

authors： Baehner F,Kampmann C,Whybra C,Miebach E,Wiethoff CM,Beck M

更新日期：2003-01-01 00:00:00

abstract：:A battery of self-report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non-clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable rep...

journal_title：Journal of inherited metabolic disease

authors： Millward LM,Kelly P,Deacon A,Senior V,Peters TJ

更新日期：2001-12-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem disorders with central nervous system involvement and a large variety of clinical symptoms occur. The main characteristics are developmental delay,...

journal_title：Journal of inherited metabolic disease

authors： Dörre K,Olczak M,Wada Y,Sosicka P,Grüneberg M,Reunert J,Kurlemann G,Fiedler B,Biskup S,Hörtnagel K,Rust S,Marquardt T

更新日期：2015-09-01 00:00:00

abstract：:Hypoglycaemia induced by fructose administration is one of the diagnostic clues to fructose-1,6-diphosphatase (FDPase) deficiency (McKusick 229700). However, the pathological mechanism of this reactive hypoglycaemia is not fully known. This paper describes two siblings with FDPase deficiency, diagnosed enzymatically i...

journal_title：Journal of inherited metabolic disease

authors： Nagai T,Yokoyama T,Hasegawa T,Tsuchiya Y,Matsuo N

更新日期：1992-01-01 00:00:00

abstract：:Recently a striking elevation of the activity of chitotriosidase, an endo beta-glucosaminidase distinct from lysozyme, was found in plasma from patients with Gaucher type I disease (McKusick 230800). Plasma chitotriosidase originates from activated macrophages and this elevation is secondary to the basic defect in Gau...

journal_title：Journal of inherited metabolic disease

authors： Guo Y,He W,Boer AM,Wevers RA,de Bruijn AM,Groener JE,Hollak CE,Aerts JM,Galjaard H,van Diggelen OP

更新日期：1995-01-01 00:00:00

abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

journal_title：Journal of inherited metabolic disease

authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

更新日期：1997-06-01 00:00:00

abstract：:Animal models of inborn errors of metabolism are useful for investigating the pathogenesis associated with the corresponding human disease. Since the mechanisms involved in the pathophysiology of succinate semialdehyde dehydrogenase (SSADH) deficiency (Aldh5a1; OMIM 271980) are still not established, in the present st...

journal_title：Journal of inherited metabolic disease

authors： Latini A,Scussiato K,Leipnitz G,Gibson KM,Wajner M

更新日期：2007-10-01 00:00:00

abstract：:Carnitine uptake has been studied in fibroblasts from a case of hereditary carnitine deficiency and in relatives. There was no evidence for carrier-dependent uptake in cells from the patient. The mother and probably the healthy sister had an impaired uptake. The results show that the defect in this form of carnitine d...

journal_title：Journal of inherited metabolic disease

authors： Eriksson BO,Gustafson B,Lindstedt S,Nordin I

更新日期：1989-01-01 00:00:00

abstract：:The mechanism of formation of extracellular fluid is first described, followed by an explanation of the relation between osmotic force, reflection coefficient and molecular size. The possible mechanism of brain extracellular fluid formation is then proposed in relation to the restriction offered by the blood-brain bar...

journal_title：Journal of inherited metabolic disease

authors： Segal MB

更新日期：1993-01-01 00:00:00

abstract：:A brief outline of the known biochemical roles of manganese and chromium is given before the problems of determining human trace metal status are discussed. The factors predisposing to trace metal deficiency are reviewed but particular emphasis is placed upon those which alter the bioavailability of essential trace me...

journal_title：Journal of inherited metabolic disease

authors： Aggett PJ,Davies NT

更新日期：1983-01-01 00:00:00

abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...

journal_title：Journal of inherited metabolic disease

authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

更新日期：2000-07-01 00:00:00

abstract：:We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were h...

journal_title：Journal of inherited metabolic disease

authors： Haan EA,Rogers JG,Lewis GP,Rowe PB

更新日期：1985-01-01 00:00:00

abstract：:Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a...

journal_title：Journal of inherited metabolic disease

authors： Kullberg-Lindh C,Hannoun C,Lindh M

更新日期：2002-11-01 00:00:00

abstract：:In addition to systemic manifestations with skeletal, pulmonary, renal, and haematological signs, lysinuric protein intolerance (LPI), a membrane transport defect of cationic amino acids, is often complicated by severe life-threatening immunological manifestations. A 10-year-old boy with LPI who exhibited a severe sys...

journal_title：Journal of inherited metabolic disease

authors： Dionisi-Vici C,De Felice L,el Hachem M,Bottero S,Rizzo C,Paoloni A,Goffredo B,Sabetta G,Caniglia M

更新日期：1998-04-01 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic opt...

journal_title：Journal of inherited metabolic disease

authors： Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri G

更新日期：2011-12-01 00:00:00

abstract：:Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 micromol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a sig...

journal_title：Journal of inherited metabolic disease

authors： Spaapen LJ,Bakker JA,Velter C,Loots W,Rubio-Gozalbo ME,Forget PP,Dorland L,De Koning TJ,Poll-The BT,Ploos van Amstel HK,Bekhof J,Blau N,Duran M

更新日期：2001-06-01 00:00:00

abstract：:We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which we...

journal_title：Journal of inherited metabolic disease

authors： Grünewald S,De Vos R,Jaeken J

更新日期：2003-01-01 00:00:00

abstract：:Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins. A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of...

journal_title：Journal of inherited metabolic disease

authors： Conter C,Rolland MO,Cheillan D,Bonnet V,Maire I,Froissart R

更新日期：2006-02-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase gene (HMBS), has been reported in almost all human populations, with varying frequencies. A founder effect for a few specific mutations in geographic regions where prevalence is high (Sweden, The Netherlands, Switzerland) has be...

journal_title：Journal of inherited metabolic disease

authors： Paradisi I,Arias S

更新日期：2010-12-01 00:00:00

abstract：:Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients pr...

journal_title：Journal of inherited metabolic disease

authors： Altassan R,Radenkovic S,Edmondson AC,Barone R,Brasil S,Cechova A,Coman D,Donoghue S,Falkenstein K,Ferreira V,Ferreira C,Fiumara A,Francisco R,Freeze H,Grunewald S,Honzik T,Jaeken J,Krasnewich D,Lam C,Lee J,Lefeber

更新日期：2021-01-01 00:00:00

abstract：:There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight. A partial ...

journal_title：Journal of inherited metabolic disease

authors： Watts RW,Harkness RA,Spellacy E,Taylor NF

更新日期：1987-01-01 00:00:00

abstract：:In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved. These include the catabolism of very long chain (greater than C22) fatty acids, the biosynthesis of ether-phospholipids and of bile acids, t...

journal_title：Journal of inherited metabolic disease

authors： Schutgens RB,Wanders RJ,Heymans HS,Schram AW,Tager JM,Schrakamp G,van den Bosch H

更新日期：1987-01-01 00:00:00

abstract：BACKGROUND:Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. ME...

journal_title：Journal of inherited metabolic disease

authors： Suntjens E,Dreschler WA,Hess-Erga J,Skrunes R,Wijburg FA,Linthorst GE,Tøndel C,Biegstraaten M

更新日期：2017-09-01 00:00:00