Biochemical findings in the first Filipino child confirmed to have nonketotic hyperglycinemia: A case report
Acta Medica Philippina
;
: 99-103, 2016.
Article
Dans Anglais
| WPRIM
| ID: wpr-632878
ABSTRACT
@#<p style="text-align justify;">This is a report of the biochemical findings in the first diagnosed case of Nonketotic Hyperglycinemia (NKH) in the Philippines. Urine metabolic screening by high voltage electrophoresis showing grossly increased glycine necessitated confirmation of NKH. Confirmatory analysis was done by paired plasma-cerebrospinal fluid quantitative amino acid analysis using Ultrahigh Performance Liquid Chromatography (UPLC). The result was compatible with the clinical picture of the patient who presented primarily with apnea, seizures, hypotonia and lethargy. This paper emphasizes the importance of locally available biochemical genetic tests in the diagnosis of inborn errors of metabolism.</p>
Recherche sur Google
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Apnée
/
Philippines
/
Crises épileptiques
/
Dépistage génétique
/
Chromatographie en phase liquide
/
Examen des urines
/
Hyperglycinémie non cétosique
/
Électrophorèse
/
Léthargie
/
Glycine
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Acta Medica Philippina
Année:
2016
Type:
Article
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