منابع مشابه
Glutaric Acidemia Type 1: Case Report
Introduction: Glutaric academia type I is a metabolic disorder that is caused due to deficiency of glutaryl-CoA dehydrogenase. Macrocephaly is a common sign in GA1, although many infants usually appear healthy at birth. Case Report A 5.5 year old boy with GA1was admitted to NICU. Chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...
متن کاملGlutaric Acidemia Type II Associated with Bipolar Affective Disorder
Inborn errors of metabolism represent rare but important causes of psychiatric disorders in adolescents or adults. Here we describe a young male presenting with symptoms of bipolar affective disorder with underlying metabolic disorder. During hospitalization he was noticed to have increased sensitivity to antipsychotics, lithium and had poor response to treatment. He was detected to have metabo...
متن کاملglutaric acidemia, a preliminary survey
objectiveglutaric aciduria type 1 (gal 1) is a cerebral organic academia, which manifests as encephalopathy with long-term neurological handicap. in this study, clinical presentation, neuroimaging, molecular finding of cgdh mutation of our patients were reviewed.materials and methodsthis was a descriptive and cross-sectional study. patients in whom gla1 were suspected by clinical manifestation,...
متن کاملglutaric acidemia type 1: case report
introduction: glutaric academia type i is a metabolic disorder that is caused due to deficiency of glutaryl-coa dehydrogenase. macrocephaly is a common sign in ga1, although many infants usually appear healthy at birth. case report a 5.5 year old boy with ga1was admitted to nicu. chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...
متن کاملInfantile parkinsonism-dystonia: a dopamine "transportopathy".
The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the J...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1989
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-3-1-5