nach oben

Erschienen in:

01.12.2010 | Case Report

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

verfasst von: Shanti Balasubramaniam, Frank Bowling, Kevin Carpenter, John Earl, Jeffrey Chaitow, James Pitt, Etienne Mornet, David Sillence, Carolyn Ellaway

Erschienen in: Journal of Inherited Metabolic Disease | Sonderheft 3/2010

Einloggen, um Zugang zu erhalten

Abstract

We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine-deficient encephalopathy. These patients highlight the importance of tissue non-specific alkaline phosphatase in the neuronal PLP-dependent metabolism of neurotransmitters. In addition, the disturbance of PLP metabolism appears to underlie the predominant neurological presentation in our patients. We recommend the measurement of serum alkaline phosphatase (ALP) during the assessment of perinatal seizures.

Anderson HC, Sipe JB, Hessle L et al (2004) Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice. Am J Pathol 164:841–847PubMedCrossRef

Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W (2009) Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone 40:1655–1661CrossRef

Bethenod M, Cotte MF, Collombel C, Frederich A, Cotte J (1967) Neonatal discovery of hypophosphatasia. Bone improvement, fatal convulsant encephalopathy. Ann Pediatr (Paris) 14:835–841

Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, De Mazancourt P, Serre J-L, Mornet E (2008) A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet 73:245–250PubMedCrossRef

Clayton P (2006) B6 responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 29:317–326PubMedCrossRef

Cole DEC (2008) Hypophosphatasia update: recent advances in diagnosis and treatment. Clin Genet 73:232–235PubMedCrossRef

Fedde KN, Mitchell MP, Henthorn PS et al (1996) Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J Clin Endocrinol Metab 81:2587–2594PubMedCrossRef

Fonta C, Negyessy L, Renaud L, Barone P (2005) Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex. J Comp Neurol 486:179–196PubMedCrossRef

Fraser D (1957) Hypophosphatasia. Am J Med 22:730–746PubMedCrossRef

Greenberg CR, Evans JA, McKendry-Smith S et al (1990) Infantile hypophosphatasia: localization within chromosome region 1p36.1.1–31 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46:286–292PubMed

Harris H (1990) The human alkaline phosphatases: what we know and what we don’t know. Clin Chim Acta 186:133–150PubMedCrossRef

Iqbal SJ, Brain A, Reynolds TM et al (1998) Relationship between serum alkaline phosphatase and pyridoxal-5′-phosphate levels in hypophosphatasia. Clin Sci 94:203–206PubMed

Ito S, Nakayama T, Die S et al (2008) Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. Dev Med Child Neurol 50:876–878PubMedCrossRef

Kang JH, Hong ML, Kim DW et al (2004) Genomic organization, tissue distribution and deletion mutation of human pyridoxine-5′-phosphate oxidase. Eur J Biochem 271:2452–2461PubMedCrossRef

Lia Baldini AS, Muller F, Taillandier A et al (2001) A molecular approach to dominance in hypophosphatasia. Hum Genet 109:99–108PubMedCrossRef

Litmanovitz I, Reish O, Dolfin T, Arnon S, Regev R, Grinshpan G, Yamazaki M, Ozono K (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis 25:35–40PubMedCrossRef

Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laaß MW, Pritsch M, Wilichowski E, Hörster F (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 32:371–380PubMedCrossRef

Millan JL, Narisawa S, Lemire I et al (2007) Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 22(Suppl 1):S72

Mills PB, Surtees RA, Champion MP et al (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet 14:1077–1086PubMedCrossRef

Moore CA, Curry CJ, Henthorn PS, Smith JA, Smith JC, O’Lague P, Coburn SP, Weaver DD, Whyte MP (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 86:410–415PubMedCrossRef

Mornet E (2007) Hypophosphatasia. Orphanet J Rare Dis 2:40PubMedCrossRef

Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B (1998) Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6:308–314PubMedCrossRef

Orimo H, Goseki-Sone M, Sato S, Shimada T (1997) Detection of deletion 1154–1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 42:364–366PubMedCrossRef

Pauli RM, Modaff P, Sipes SL, Whyte MP (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86:434–438PubMedCrossRef

Pitt JJ, Eggington M (2007) Urine screening strategies for 2-aminoadipic semialdehyde dehydrogenase deficiency (abstract only). J Inherit Metab Dis 30(Suppl 1):134

Posen S, Whyte MP, Coburn SP, Freeman R, Collins F, Fedde KN et al (1997) Infantile hypophosphatasia with fatal status epilepticus. J Bone Miner Res S528

Rathbun JC (1948) Hypophosphatasia, a new developmental anomaly. Am J Dis Child 75:822–831PubMed

Said HM (2004) Recent advances in carrier-mediated intestinal absorption of water-soluble vitamins. Ann Rev Physiol 66:419–446CrossRef

Surtees R, Mills P, Clayton P (2006) Inborn errors affecting vitamin B6 metabolism. Future Neurol 1:615–620CrossRef

Swoboda KJ, Saul JP, McKenna C, Speller NB, Hyland K (2003) Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcome. Ann Neurol 54(Supplement 6):49–55CrossRef

Weiss MJ, Henthorn PS, Lafferty MA et al (1986) Isolation and characterization of a cDNA encoding human liver/bone/kidney-type alkaline phosphatase. Proc Natl Acad Sci U S A 83:7182–7186PubMedCrossRef

Wenkert D, McAlister WH, Coburn S, Ryan L, Hersh JH, Zerega J, Mumm S, Whyte MP (2007) Non-lethal hypophosphatasia interpreted as severe skeletal dysplasia in utero. Fifth International Alkaline Phosphatase Symposium: “Understanding alkaline phosphatase function—pathophysiology and treatment of hypophosphatasia and other AP-related diseases”, Huningue, France

Whyte MP (1994) Hypophosphatasia and role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439–461PubMed

Whyte MP (1995) Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 4095–4111

Whyte MP, Mahuren JD, Fedde NK et al (1988) Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. J Clin Invest 81:1234–1239PubMedCrossRef

Whyte MP, Walkenhorst DA, Fedde KN, Henthorn PS, Hill CS (1996) Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. J Clin Endocrinol Metab 81:2142–2148PubMedCrossRef

Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL (2003) Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18:624–636PubMedCrossRef

Whyte MP, Essmyer K, Geimer M, Mumm S (2006) Homozygosity for TNSALP mutation 1348C>T (Arg 433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. J Pediatr 148:753–758PubMedCrossRef

Titel: Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability
verfasst von: Shanti Balasubramaniam
Frank Bowling
Kevin Carpenter
John Earl
Jeffrey Chaitow
James Pitt
Etienne Mornet
David Sillence
Carolyn Ellaway
Publikationsdatum: 01.12.2010
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe Sonderheft 3/2010
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-9012-y

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

19.04.2024 | Vorhofflimmern | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

Abstract

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Parodontalbehandlung verbessert Prognose bei Katheterablation

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Update Innere Medizin

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Sonderheft 3/2010

Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome)

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

Case report: long-term outcome post-heart transplantation in a woman with Fabry’s disease

Fatal cerebral edema associated with serine deficiency in CSF

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Parodontalbehandlung verbessert Prognose bei Katheterablation

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Update Innere Medizin