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GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
Dayasiri, Kavinda Chandimal; Suraweera, Nayani; Nawarathne, Deepal; Senanayake, U E; Dayanath, B K T P; Jasinge, Eresha; Weerasekara, Kumudu.
Afiliação
  • Dayasiri KC; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. kavindadayasiri@gmail.com.
  • Suraweera N; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
  • Nawarathne D; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
  • Senanayake UE; North Colombo Teaching Hospital, Ragama, Sri Lanka.
  • Dayanath BKTP; North Colombo Teaching Hospital, Ragama, Sri Lanka.
  • Jasinge E; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
  • Weerasekara K; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
BMC Pediatr ; 19(1): 199, 2019 06 15.
Article em En | MEDLINE | ID: mdl-31202265
ABSTRACT

BACKGROUND:

Tetrahydrobiopterin (BH4) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH4 synthesis which exists in recessive and dominant forms. The recessive form presents with complex neurological and autonomic dysfunction whilst the dominant form presents as Dopa-responsive dystonia. CASE PRESENTATION We describe a South Asian child who initially presented with neurological dysfunction and recurrent vomiting and later developed recurrent hyperthermia for several months. The child did not have screening for hyperphenylalaninemia at birth and was found to have marked hyperphenylalaninemia after clinical presentation at 5 months. Further evaluation revealed BH4 deficiency. GTP-Cyclohydrolase I deficiency (GTPCH) was identified based on normal dihydro pteridine reductase activity and markedly reduced neopterin in dried blood spot test. After institution of treatment and control of high phenylalanine levels, clinical deterioration decelerated yet with noticeable residual neurological dysfunction.

CONCLUSION:

To authors' knowledge, this is first report of GTPCH deficiency in a South Asian child. The case highlights practical issues regarding diagnosis of GTPCH deficiency, especially in countries without broader universal newborn screening programs for early detection of inherited metabolic disorders. Testing for GTPCH deficiency should be considered for patients with unexplained neurological and autonomic symptoms following initial metabolic screen.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Vômito / Febre / GTP Cicloidrolase / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Sri Lanka

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Vômito / Febre / GTP Cicloidrolase / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Sri Lanka