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  1. Article: The diagnosis of mitochondrial HMG-CoA synthase deficiency.

    Zschocke, Johannes / Penzien, Johannes M / Bielen, Rainer / Casals, Núria / Aledo, Rosa / Pié, Juan / Hoffmann, Georg F / Hegardt, Fausto G / Mayatepek, Ertan

    The Journal of pediatrics

    2002  Volume 140, Issue 6, Page(s) 778–780

    Abstract: Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated ... ...

    Abstract Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes.
    MeSH term(s) Coenzyme A Ligases/deficiency ; DNA Mutational Analysis ; Fasting/metabolism ; Female ; Humans ; Hydroxymethylglutaryl-CoA Synthase ; Hypoglycemia/enzymology ; Infant ; Metabolism, Inborn Errors/diagnosis ; Mitochondria, Liver/enzymology ; Molecular Conformation
    Chemical Substances Hydroxymethylglutaryl-CoA Synthase (EC 2.3.3.10) ; Coenzyme A Ligases (EC 6.2.1.-)
    Language English
    Publishing date 2002-06
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1067/mpd.2002.123854
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

    Wopereis, Suzan / Grünewald, Stephanie / Morava, Eva / Penzien, Johannes M / Briones, Paz / García-Silva, M Teresa / Demacker, Pierre N M / Huijben, Karin M L C / Wevers, Ron A

    Clinical chemistry

    2003  Volume 49, Issue 11, Page(s) 1839–1845

    Abstract: Background: Defects in the biosynthesis of N-glycans may be found by isoelectric focusing (IEF) of plasma transferrin. No test is available to demonstrate O-glycan biosynthesis defects.: Methods: We used isoforms of apolipoprotein C-III (apoC-III) as ...

    Abstract Background: Defects in the biosynthesis of N-glycans may be found by isoelectric focusing (IEF) of plasma transferrin. No test is available to demonstrate O-glycan biosynthesis defects.
    Methods: We used isoforms of apolipoprotein C-III (apoC-III) as a marker for the biosynthesis of core 1 mucin type O-glycans. Plasma samples from patients with primary defects and secondary alterations in N-glycan biosynthesis were studied by apoC-III isofocusing.
    Results: Age-related reference values for apoC-III were determined. Plasma samples from patients with the primary congenital disorders of glycosylation (CDG) types Ia-Ic, Ie, If, IIa, and IId all showed a normal apoC-III isofocusing profile. Plasma from two patients with CDG type IIx were tested: one showed a normal apoC-III distribution, whereas the other showed a hypoglycosylation profile. In plasma from patients with hemolytic uremic syndrome (HUS), a hypoglycosylation profile was obtained.
    Conclusions: IEF of apoC-III is a rapid and simple technique that may be used as a screening assay for abnormalities in core 1 mucin type O-glycans. Evidence that a patient in this study has a primary genetic defect affecting both N- and O-glycosylation provides the first example of an inborn error of metabolism affecting the biosynthesis of core 1 mucin type O-glycans. Our data narrow the options for the position of the primary defect in this patient down to a step in the biosynthesis, activation, or transfer of galactose or N-acetylneuraminic acid to both N- and O-glycans. Circulating neuraminidase excreted by Streptococcus pneumoniae caused the high percentage of asialo apoC-III in two HUS patients.
    MeSH term(s) Adolescent ; Age Factors ; Apolipoprotein C-III ; Apolipoproteins C/genetics ; Carbohydrate Metabolism, Inborn Errors/diagnosis ; Child ; Child, Preschool ; Glycosylation ; Humans ; Infant ; Infant, Newborn ; Isoelectric Focusing ; Polysaccharides/biosynthesis ; Protein Isoforms/genetics ; Reference Values
    Chemical Substances Apolipoprotein C-III ; Apolipoproteins C ; Polysaccharides ; Protein Isoforms
    Language English
    Publishing date 2003-10-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1373/clinchem.2003.022541
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Iannicelli, Miriam / Brancati, Francesco / Mougou-Zerelli, Soumaya / Mazzotta, Annalisa / Thomas, Sophie / Elkhartoufi, Nadia / Travaglini, Lorena / Gomes, Céline / Luigi Ardissino, Gian / Bertini, Enrico / Boltshauser, Eugen / Castorina, Pierangela / D'Arrigo, Stefano / Fischetto, Rita / Leroy, Brigitte / Loget, Philippe / Bonnière, Maryse / Starck, Lena / Tantau, Julia /
    Gentilin, Barbara / Majore, Silvia / Swistun, Dominika / Flori, Elizabeth / Lalatta, Faustina / Pantaleoni, Chiara / Penzien, Johannes / Grammatico, Paola / Dallapiccola, Bruno / Gleeson, Joseph G / Attie-Bitach, Tania / Valente, Enza Maria

    Human mutation. 2010 May, v. 31, no. 5

    2010  

    Abstract: Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic ... ...

    Abstract Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
    Language English
    Dates of publication 2010-05
    Size p. E1319-E1331.
    Publishing place Wiley Subscription Services, Inc., A Wiley Company
    Document type Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.21239
    Database NAL-Catalogue (AGRICOLA)

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    Zs.A 3586: Show issues Location:
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  4. Article ; Online: Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

    Iannicelli, Miriam / Brancati, Francesco / Mougou-Zerelli, Soumaya / Mazzotta, Annalisa / Thomas, Sophie / Elkhartoufi, Nadia / Travaglini, Lorena / Gomes, Céline / Ardissino, Gian Luigi / Bertini, Enrico / Boltshauser, Eugen / Castorina, Pierangela / D'Arrigo, Stefano / Fischetto, Rita / Leroy, Brigitte / Loget, Philippe / Bonnière, Maryse / Starck, Lena / Tantau, Julia /
    Gentilin, Barbara / Majore, Silvia / Swistun, Dominika / Flori, Elizabeth / Lalatta, Faustina / Pantaleoni, Chiara / Penzien, Johannes / Grammatico, Paola / Dallapiccola, Bruno / Gleeson, Joseph G / Attie-Bitach, Tania / Valente, Enza Maria

    Human mutation

    2010  Volume 31, Issue 5, Page(s) E1319–31

    Abstract: Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic ... ...

    Abstract Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
    MeSH term(s) Abnormalities, Multiple/genetics ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/pathology ; Liver Cirrhosis/genetics ; Liver Cirrhosis/pathology ; Membrane Proteins/genetics ; Mutation/genetics ; Phenotype ; Pregnancy ; Prenatal Diagnosis
    Chemical Substances Membrane Proteins ; TMEM67 protein, human
    Language English
    Publishing date 2010-03-16
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.21239
    Database MEDical Literature Analysis and Retrieval System OnLINE

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