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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

The child with a large head and his MRI brain revealing wide CSF spaces with temporal lobe hypoplasia, bilateral front parietal subdural effusions and dilatation of the sylvian fissures with open opercula (arrow), and high signal intensity seen in bilateral caudate nuclei, putamen, and deep subcortical white matter. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.
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fig2: The child with a large head and his MRI brain revealing wide CSF spaces with temporal lobe hypoplasia, bilateral front parietal subdural effusions and dilatation of the sylvian fissures with open opercula (arrow), and high signal intensity seen in bilateral caudate nuclei, putamen, and deep subcortical white matter. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.

Mentions: A three-month-old male child born of consanguineous marriage presented with rapid increase in head size. At birth head circumference was 33 cms and showed rapid growth in the last one month and measured 47 cms. Although child could smile responsively and feed well, complete head control had not been achieved. On examination child had macrocephaly, anterior fontanelle bludged, and motor delay. Complete blood picture, serum electrolytes, blood glucose, serum ammonia, liver function test, and CSF study were normal. MRI brain (using T2 weighted FLAIR) reveals wide CSF spaces with temporal lobe hypoplasia, bilateral front parietal subdural effusions, and dilatation of the sylvian fissures with open opercula (bat-wing appearance) and high signal intensity seen in bilateral caudate nuclei, putamen, and deep subcortical white matter suggestive of glutaric aciduria type 1 (Figure 2). The case was confirmed by urinary organic acid analysis by tandem mass spectrometry which revealed a marked excretion of glutaric acid. Then child was put on protein restricted diet with carnitine and riboflavin supplementation. After 3 months of followup child had good head control and could sit with support 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)

The child with a large head and his MRI brain revealing wide CSF spaces with temporal lobe hypoplasia, bilateral front parietal subdural effusions and dilatation of the sylvian fissures with open opercula (arrow), and high signal intensity seen in bilateral caudate nuclei, putamen, and deep subcortical white matter. 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

fig2: The child with a large head and his MRI brain revealing wide CSF spaces with temporal lobe hypoplasia, bilateral front parietal subdural effusions and dilatation of the sylvian fissures with open opercula (arrow), and high signal intensity seen in bilateral caudate nuclei, putamen, and deep subcortical white matter. Widening of the sylvian fissure gives the characteristic “bat-wing” appearance.
Mentions: A three-month-old male child born of consanguineous marriage presented with rapid increase in head size. At birth head circumference was 33 cms and showed rapid growth in the last one month and measured 47 cms. Although child could smile responsively and feed well, complete head control had not been achieved. On examination child had macrocephaly, anterior fontanelle bludged, and motor delay. Complete blood picture, serum electrolytes, blood glucose, serum ammonia, liver function test, and CSF study were normal. MRI brain (using T2 weighted FLAIR) reveals wide CSF spaces with temporal lobe hypoplasia, bilateral front parietal subdural effusions, and dilatation of the sylvian fissures with open opercula (bat-wing appearance) and high signal intensity seen in bilateral caudate nuclei, putamen, and deep subcortical white matter suggestive of glutaric aciduria type 1 (Figure 2). The case was confirmed by urinary organic acid analysis by tandem mass spectrometry which revealed a marked excretion of glutaric acid. Then child was put on protein restricted diet with carnitine and riboflavin supplementation. After 3 months of followup child had good head control and could sit with support 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