D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour

Neuropediatrics

Volumn 33, Issue 1, 2002, Pages 47-50

  Topcu, Meral ^a   Saatci, I ^a   Haliloglu, G ^a   Kesimer, M ^a   Coskun, T ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Autistic Behaviour; D Glyceric Aciduria; MRI Findings; West Syndrome

Indexed keywords

CARBOXYLIC ACID; GLYCERIC ACID;

ACIDURIA; ARTICLE; AUTISM; BRAIN ATROPHY; CASE REPORT; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FAILURE TO THRIVE; HUMAN; INFANT; MALE; METABOLIC ACIDOSIS; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLARIMETRY; PRIORITY JOURNAL; SEIZURE; URINALYSIS; WEST SYNDROME;

AUTISTIC DISORDER; GLYCERIC ACIDS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; SPASMS, INFANTILE;

EID: 0036211909     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-23600     Document Type: Article

References (12)

1. D(+)-Glyceric aciduria: Etiology and clinical consequences
2. D-Glyceric-acidaemia and non-ketotic hyperglycinaemia: Clinical and laboratory findings in a new syndrome
3. CT and MR ofthe brain in the diagnosis of organic acidemias. Experiences from 107 patients
4. D-Glyceric acidemia: An inborn error associated with fructose metabolism
5. Biochemical contribution to diagnosis of a new case of D-glyceric acidemia/aciduria
6. Infantile spasms as the initial symptom of biotinidase deficiency
7. D-Glyceric acidemia: Biochemical studies of a new syndrome
8. Magnetic resonance imaging in infantile spasms: Effects of hormonal therapy
9. D-Glyceric acidemia: Clinical report and biochemical studies in a patient
10. Value of magnetic resonance imaging in West syndrome of unknown etiology
11. D-Glycerate kinase deficiency as a cause of D-Glyceric aciduria
12. West syndrome: Etiological and prognostic aspects