Challenges in diagnosing a metabolic disorder: Error of pyruvate metabolism or drug induced

Journal of Child Neurology

Volumn 29, Issue 6, 2014, Pages 833-836

  Mampilly, George Tomy ^a   Mampilly, Tomy Kochuvareed ^a   Christopher, Rita ^b   Chandramohan, Neeradha ^c   Janaki, Vijayalakshmy ^a  

^a Department of Physical Medicine and Rehabilitation National Institute for Empowerment of Persons with Multiple Disabilities ECR   (India)

^b NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

^c National Institute for Empowerment of the Persons with Multiple Disabilities   (India)

Author keywords

False positives; Metabolic disorder; Valproate

Indexed keywords

ACYLCARNITINE; BRANCHED CHAIN AMINO ACID; CARNITINE; CLONAZEPAM; DIHYDROLIPOAMIDE DEHYDROGENASE; ETIRACETAM; ISOLEUCINE; LEUCINE; ORNITHINE; TOPIRAMATE; VALINE; VALPROIC ACID; ANTICONVULSIVE AGENT; FRUCTOSE; PYRUVIC ACID; ALANINE; AMINO ACID; AMMONIA; TISSUE EXTRACT;

ALPERS DISEASE; APGAR SCORE; ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; CESAREAN SECTION; DROWSINESS; DRUG WITHDRAWAL; ENZYMATIC ASSAY; FAILURE TO THRIVE; FEMALE; HUMAN; INDIA; INFANT; INFANTILE SPASM; LACTATE BLOOD LEVEL; LETHARGY; MEDICAL HISTORY; METABOLIC DISORDER; MICROCEPHALY; MUSCLE HYPERTONIA; NERVE CELL DIFFERENTIATION; OLIGOHYDRAMNIOS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEIZURE; SKIN FIBROBLAST; SPECIAL EDUCATION; TANDEM MASS SPECTROMETRY; VOCATION; ANALOGS AND DERIVATIVES; CHEMICALLY INDUCED; METABOLIC DISEASES; METABOLISM; AMMONIA BLOOD LEVEL; ANTICONVULSANT THERAPY; BREATHING DISORDER; CHILD; CHILDHOOD DISEASE; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; EARLY INTERVENTION; ENZYME DEFICIENCY; GENE MUTATION; GENETIC SCREENING; HYPERALANINEMIA; HYPERPHENYLALANINEMIA; LABORATORY TEST; LONG TERM CARE; LYMPHOCYTE; MEDICATION ERROR; PROTEIN METABOLISM;

ANTICONVULSANTS; FEMALE; FRUCTOSE; HUMANS; INFANT; METABOLIC DISEASES; PYRUVIC ACID; VALPROIC ACID;

EID: 84903530089     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813477201     Document Type: Article

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