Transport of carnitine into cells in hereditary carnitine deficiency.

abstract：:This first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for 17 years. Before treatment, major findings were microcephaly, psychomotor retardation, episodic reduced consciousness, m...

journal_title：Journal of inherited metabolic disease

authors： Fowler B,Schutgens RB,Rosenblatt DS,Smit GP,Lindemans J

更新日期：1997-11-01 00:00:00

abstract：:Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can ...

journal_title：Journal of inherited metabolic disease

authors： Gomez-Ospina N,Scott AI,Oh GJ,Potter D,Goel VV,Destino L,Baugh N,Enns GM,Niemi AK,Cowan TM

更新日期：2016-11-01 00:00:00

abstract：:Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 o...

journal_title：Journal of inherited metabolic disease

authors： Park H,Rossiter M,Fensom AH,Winchester B,Aronson NN Jr

更新日期：1996-01-01 00:00:00

abstract：:Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep disturbances, loss of ambul...

journal_title：Journal of inherited metabolic disease

authors： Seker Yilmaz B,Davison J,Jones SA,Baruteau J

更新日期：2021-01-01 00:00:00

abstract：:We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced th...

journal_title：Journal of inherited metabolic disease

authors： Vogel KR,Ainslie GR,Walters DC,McConnell A,Dhamne SC,Rotenberg A,Roullet JB,Gibson KM

更新日期：2018-07-01 00:00:00

abstract：:This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

journal_title：Journal of inherited metabolic disease

authors： Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

更新日期：2005-01-01 00:00:00

abstract：BACKGROUND:Morphology and function of Fabry cardiomyopathy has been previously studied by echocardiography and cardiac magnetic resonance (CMR). However, the value of electrocardiography (ECG) in relation to these two techniques remains largely unknown. METHODS:One hundred fifty genetically confirmed Fabry patients we...

journal_title：Journal of inherited metabolic disease

authors： Niemann M,Hartmann T,Namdar M,Breunig F,Beer M,Machann W,Herrmann S,Ertl G,Wanner C,Weidemann F

更新日期：2013-09-01 00:00:00

abstract：OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

journal_title：Journal of inherited metabolic disease

authors： Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

更新日期：2014-09-01 00:00:00

abstract：:We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transamin...

journal_title：Journal of inherited metabolic disease

authors： Donati MA,Malvagia S,Pasquini E,Morrone A,La Marca G,Garavaglia B,Toniolo D,Zammarchi E

更新日期：2006-10-01 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：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...

journal_title：Journal of inherited metabolic disease

authors： Widhalm K,Dirisamer A,Lindemayr A,Kostner G

更新日期：2007-04-01 00:00:00

abstract：:We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should ra...

journal_title：Journal of inherited metabolic disease

authors： Wang X,Jakobs C,Bawle EV

更新日期：2003-01-01 00:00:00

abstract：:Until recently, there have not been any confirmed reports of beta-mannosidase deficiency in man. We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12 times higher than thos...

journal_title：Journal of inherited metabolic disease

authors： Tjoa S,Wenger DA,Fennessey PV

更新日期：1990-01-01 00:00:00

abstract：:We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of heterozygosity, because it c...

journal_title：Journal of inherited metabolic disease

authors： Saraiva JM,Seakins JW,Smith I

更新日期：1993-01-01 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：OBJECTIVES:To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach. METHODS:An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10...

journal_title：Journal of inherited metabolic disease

authors： Camelo JS Jr,Fernandes MI,Maciel LM,Scrideli CA,Santos JL,Camargo AS Jr,Passador CS,Leite PC,Resende DR,de Souza LO,Giugliani R,Jorge SM

更新日期：2009-12-01 00:00:00

abstract：:The very long chain fatty acids in cultured fibroblasts from six patients with the cerebro-hepato-renal syndrome of Zellweger, from six of their parents, from three controls, and also in three amniotic fluid control cell lines were analysed by gas chromatography. Increased concentrations of hexacosanoic acid (C26:O) w...

journal_title：Journal of inherited metabolic disease

authors： Govaerts L,Bakkeren J,Monnens L,Maas J,Trijbels F,Kleijer W

更新日期：1985-01-01 00:00:00

abstract：:Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed r...

journal_title：Journal of inherited metabolic disease

authors： Chen W,Caston R,Balakrishnan B,Siddiqi A,Parmar K,Tang M,Feng M,Lai K

更新日期：2017-01-01 00:00:00

abstract：:Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose-1-phosphate (Gal-1-P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian fai...

journal_title：Journal of inherited metabolic disease

authors： Kaufman FR,Donnell GN,Roe TF,Kogut MD

更新日期：1986-01-01 00:00:00

abstract：AIM:This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS:24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, pl...

journal_title：Journal of inherited metabolic disease

authors： Grigorescu Sido P,Drugan C,Cret V,Al-Kzouz C,Denes C,Coldea C,Zimmermann A

更新日期：2007-10-01 00:00:00

abstract：:A survey is given of literature reports on the effect of performance in offspring from 26 maternal PKU pregnancies treated prior to conception. The survey includes two women who were referred to us for genetic counselling because they had both given birth to microcephalic, mentally retarded children. The women were di...

journal_title：Journal of inherited metabolic disease

authors： Güttler F,Lou H,Andresen J,Kok K,Mikkelsen I,Nielsen KB,Nielsen JB

更新日期：1990-01-01 00:00:00

abstract：:The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of...

journal_title：Journal of inherited metabolic disease

authors： Brooks DA

更新日期：1993-01-01 00:00:00

abstract：:After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. ...

journal_title：Journal of inherited metabolic disease

authors： Jaeken J

更新日期：2004-01-01 00:00:00

abstract：:Thirty patients with early and continuously treated phenylketonuria (PKU) between 8 and 20 years of age were compared with 30 controls, matched individually for age, sex, and educational level of both parents, on behaviour rating scales for parents and teachers as well as a school achievement scale. PKU patients, as a...

journal_title：Journal of inherited metabolic disease

authors： Stemerdink BA,Kalverboer AF,van der Meere JJ,van der Molen MW,Huisman J,de Jong LW,Slijper FM,Verkerk PH,van Spronsen FJ

更新日期：2000-09-01 00:00:00

abstract：:XLH (X-linked hypophosphataemia, gene symbol HYP, McKusick 307800, 307810) and its murine counterparts (Hyp and Gy) map to a conserved segment on the X-chromosome (Xp 22.31-p.21.3, human; distal X, mouse). Gene dosage has received relatively little attention in the long history of research on this disease, which began...

journal_title：Journal of inherited metabolic disease

authors： Scriver CR,Tenenhouse HS

更新日期：1992-01-01 00:00:00

abstract：:Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol transport protein, NPC2 protein. Many cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. This disease is theoretically corre...

journal_title：Journal of inherited metabolic disease

authors： Bonney DK,O'Meara A,Shabani A,Imrie J,Bigger BW,Jones S,Wraith JE,Wynn RF

更新日期：2010-12-01 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：:Genetic disorders of purine and pyrimidine (PP) metabolism are under-reported and infrequently mentioned in the general literature, as well as in reviews dedicated to other inborn errors of metabolism. Owing to limited awareness, relatively recent recognition, as well as considerable phenotypic variation, these disord...

journal_title：Journal of inherited metabolic disease

authors： Jurecka A

更新日期：2009-04-01 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：:Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay-Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r = 0.75, p less than 0.01). Compared to leukocy...

journal_title：Journal of inherited metabolic disease

authors： Buchalter MS,Wannmacher CM,Wajner M

更新日期：1984-01-01 00:00:00