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A treatable neurometabolic disorder: glutaric aciduria type 1.

Pusti S, Das N, Nayek K, Biswas S - Case Rep Pediatr (2014)

Bottom Line: Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase.It results in the accumulation of 3-hydroxyglutaric and glutaric acid.Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, India.

ABSTRACT
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.

No MeSH data available.


Related in: MedlinePlus

Showing patient with macrocephaly, typical facies, and MRI of his brain reveals frontotemporal atrophy, dilated sylvian fissures with open opercula (arrow), diffuse hyperintense lesions in bilateral basal ganglia, and both frontal white matter and bilateral periventricular area. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.
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fig1: Showing patient with macrocephaly, typical facies, and MRI of his brain reveals frontotemporal atrophy, dilated sylvian fissures with open opercula (arrow), diffuse hyperintense lesions in bilateral basal ganglia, and both frontal white matter and bilateral periventricular area. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.

Mentions: A one-and-half-year-old Muslim male child born of consanguineous marriage presented with gross developmental delay and large head size, with the child having history of recurrent episodes of seizures. Although he could smile responsively and feed well, complete head control had not been achieved. On examination he had macrocephaly (OFC 52 cms, expected 47 cms), broad nasal root, hypertelorism, thin sparse hypopigmented hair, and gross developmental delay. Investigations including peripheral blood picture, serum electrolytes, blood glucose, serum ammonia, and liver function test were normal. Urine for tandem mass spectrometry (TMS) report was suggestive of glutaric aciduria. MRI (on T2 weighted MR) brain reveals frontotemporal atrophy, dilated sylvian fissures with open opercula (bat-wing appearance) with hyperintense lesions in bilateral basal ganglia, and the both frontal white matter and bilateral periventricular area suggestive of glutaric aciduria type 1 (Figure 1). Then the child was put on protein restricted diet with carnitine and riboflavin supplementation and anticonvulsant for seizure control. After 6 months of treatment anticonvulsant was withdrawn. After 1 year of followup he remained seizure-free and now he can sit without support, stand with support, and speak disyllable words and head size remained static.


A treatable neurometabolic disorder: glutaric aciduria type 1.

Pusti S, Das N, Nayek K, Biswas S - Case Rep Pediatr (2014)

Showing patient with macrocephaly, typical facies, and MRI of his brain reveals frontotemporal atrophy, dilated sylvian fissures with open opercula (arrow), diffuse hyperintense lesions in bilateral basal ganglia, and both frontal white matter and bilateral periventricular area. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3921946&req=5

fig1: Showing patient with macrocephaly, typical facies, and MRI of his brain reveals frontotemporal atrophy, dilated sylvian fissures with open opercula (arrow), diffuse hyperintense lesions in bilateral basal ganglia, and both frontal white matter and bilateral periventricular area. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.
Mentions: A one-and-half-year-old Muslim male child born of consanguineous marriage presented with gross developmental delay and large head size, with the child having history of recurrent episodes of seizures. Although he could smile responsively and feed well, complete head control had not been achieved. On examination he had macrocephaly (OFC 52 cms, expected 47 cms), broad nasal root, hypertelorism, thin sparse hypopigmented hair, and gross developmental delay. Investigations including peripheral blood picture, serum electrolytes, blood glucose, serum ammonia, and liver function test were normal. Urine for tandem mass spectrometry (TMS) report was suggestive of glutaric aciduria. MRI (on T2 weighted MR) brain reveals frontotemporal atrophy, dilated sylvian fissures with open opercula (bat-wing appearance) with hyperintense lesions in bilateral basal ganglia, and the both frontal white matter and bilateral periventricular area suggestive of glutaric aciduria type 1 (Figure 1). Then the child was put on protein restricted diet with carnitine and riboflavin supplementation and anticonvulsant for seizure control. After 6 months of treatment anticonvulsant was withdrawn. After 1 year of followup he remained seizure-free and now he can sit without support, stand with support, and speak disyllable words and head size remained static.

Bottom Line: Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase.It results in the accumulation of 3-hydroxyglutaric and glutaric acid.Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, India.

ABSTRACT
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.

No MeSH data available.


Related in: MedlinePlus