3-phosphoglycerate dehydrogenase deficiency: Description of two new cases in Tunisia and review of the literature

Neuropediatrics

Volumn 44, Issue 5, 2013, Pages 281-285

  Kraoua, Ichraf ^a   Wiame, Elsa ^b   Kraoua, Lilia ^c   Nasrallah, Fehmi ^d   Benrhouma, Hanen ^a   Rouissi, Aida ^a   Turki, Ilhem ^a   Chaabouni, Habiba ^c   Briand, Gilbert ^e   Kaabachi, Naziha ^d   Schaftingen, Emilevan ^b   Gouider Khouja, Neziha ^a  

^a Institut National de Neurologie Tunisia   (Tunisia)

^b DE DUVE INSTITUTE   (Belgium)

^c CHARLES NICOLLE HOSPITAL   (Tunisia)

^d LA RABTA HOSPITAL   (Tunisia)

^e LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

epilepsy; microcephaly; serine; supplementation

Indexed keywords

CLONAZEPAM; GLYCINE; PHOSPHOGLYCERATE DEHYDROGENASE; PYRUVIC ACID; SERINE; VALPROIC ACID; VERY LONG CHAIN FATTY ACID; VIGABATRIN;

3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATARACT; CHILD; CORPUS CALLOSUM AGENESIS; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; FETUS ECHOGRAPHY; HEAD CIRCUMFERENCE; HUMAN; INFANTILE SPASM; IRRITABILITY; KARYOTYPE 46,XY; LACTATE BLOOD LEVEL; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL SUPPORT; NYSTAGMUS; OPTIC NERVE ATROPHY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; SPASTICITY; TUNISIA;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; PHOSPHOGLYCERATE DEHYDROGENASE; SEIZURES; SERINE; TUNISIA;

EID: 84885083172     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1338133     Document Type: Article

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