الفهرس 
REVIEW OF LITERATUREOnly 14 pages are availabe for public view
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Abstract
I
n this study, we aimed to describe and correlate the clinical, biochemical and molecular characteristics of Egyptian children with glutaric aciduria and as well their demographic criteria. We included 89 patients. (60 males and 29 females with an age range of 28 – 252 months ’’mean 84.03 ± 39.24”) with glutaric academia type 1 attending and following up in The Genetics Unit, Ain Shams University Hospital (GUASH).
Nearly half of our patients (48.3%) were from Delta and (51.7%) from Upper Egypt. Family history and parenteral consanguinity were positive in 30 patients (33.7%). There was a median delay of 6 months in the diagnosis, with sixty- four patients (71.9%) diagnosed with decompensation after an associated intercurrent infection. Eight of our asymptomatic patients (9.0 %) were diagnosed because of positive family history of another sib with glutaric acidemia, by neonatal screening. As expected, patients diagnosed by screening test had significantly better speech, fine motor and gross motor development & significantly lower evidence of macrocephaly or muscular tone abnormality. Convulsion was positive in (40.4%), intra Cranial Hemorrhage was reported in (71.9%) and dystonia was positive in 53 patients (59.6%). All patients had variable degrees of developmental delay that ranged from mild to severe delay.
On examination, 68.5% of our patients had macrocephaly with an OFC above 97th centile, while four patients (4.4%) were diagnosed with microcephaly. Patients with macrocephaly were diagnosed earlier than those without.
Biochemical analysis (Tandem mass spectrometry (MS/MS) and gas chromatography (GC/MS) were done for all patients and revealed that C5DC level in blood was high above (0.34 μmol/L) in all included patients .Eighty-three of the eighty-nine patients (93.3%) of were high excretors and six patients (6.7 %) were low. Patients with high glutaric acid excretion presented earlier than low excretors.
Molecular analysis for forty-seven patients revealed that Seventeen patients (36.2%) were with (1204 C>T) mutation which is the commonest mutation in our study and four patients (8.5%) with (770G>A) mutation, four patients (8.5%) with (192G>T) mutation and twenty two patients (46.8%) with other mutations.
Neuroimaging of thirty-five Children. MRI reports showed that the most area affected in the brain was Globus pallidus seen in 31(88.6%) of 35 patients underwent MRI examinations.
Conclusion:
Glutaric aciduria is not uncommon in Egypt. The disorder has a devastating effect on normal development. Prompt early recognition specifically through neonatal screening can prevent the catastrophic neurological deterioration resulting from acute striatal damage and minimizing the morbidity associated with this disorder.