Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. La aciduria glutárica tipo I es una enfermedad neurometabólica, de herencia autosómico recesiva (1 caso/ ), caracterizada por discinesia y distonía. Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement.

Author: Mazahn Meztizragore
Country: Iraq
Language: English (Spanish)
Genre: Music
Published (Last): 16 February 2008
Pages: 247
PDF File Size: 10.69 Mb
ePub File Size: 19.37 Mb
ISBN: 814-8-71402-316-6
Downloads: 33113
Price: Free* [*Free Regsitration Required]
Uploader: Kagamuro

Antenatal diagnosis Prenatal testing can be performed by genetic and GCDH enzyme analysis of chorionic villi sample or through measuring GA levels in amniotic fluid in at-risk families.

Summary Epidemiology Worldwide prevalence is estimated at 1 inbirths. Glutaric aciduria a “new” disorder of amino acid metabolism.

Genetic testing is necessary to confirm antenatal diagnosis.

Si continua navegando, consideramos que acepta su uso. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency.

In 10 patients, the disorder was first manifest between 3 and 18 months during an acute infectious illness.

Glutaric aciduria type 1

The patients presented between 6 months and 2 years of age with either seizures or hypotonia and dystonia. Glutaric acidemia type 1 or ” glutaric aciduria “, ” GA1 “, or ” GAT1 ” is an inherited disorder in which the body is unable to completely break down the amino acids lysinehydroxylysine and tryptophan. Megalencephaly in aciruria neonatal period as initial manifestation of glutaric aciduria tipo.


In the chronic stage, a low protein diet with carnitine and riboflavin supplements should be given.

There was a problem providing the content you requested

While GCDH deficiency is a rare disease, GLO deficiency is the most common of metabolic diseases affecting children, limiting ascorbic qciduria biosynthesis to a minute fraction of what other non-primate species acidria.

Prognosis depends on a timely diagnosis and consequential management and treatment. GDD is now regarded as a treatable neurometabolic disorder.

Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease. Antenatal diagnosis of glutaric acidemia. Several mutations were found in more than one patient, but no one prevalent mutation was detected in the general population.

Ascorbic acid is used to prevent multiple organ failure and to lessen mortality and morbidity in intensive care units. Glutaric aciduria type 1 is a slowly progressive disease, with episodes of acute deterioration, often following infection. Macrocephaly is amongst the earliest signs of GA1. Disease definition Glutaryl-CoA dehydrogenase GCDH deficiency GDD is an autosomal recessive aclduria disorder clinically characterized by encephalopathic crises resulting in striatal injury and a glitarica dystonic dyskinetic movement disorder.

In most neonates, an enlarged head circumference is the only presenting sign of the disorder. All had a unique pattern of frontotemporal atrophy on computerized tomography CT. Amongst patients who had been reported to have GA1, were symptomatic two thirds ; being symptomatic was seen as an indication of ” low treatment efficacy “. In some patients, hypotonia and dystonia develop gradually with no encephalopathic crisis, which is known as late-onset or insidious-onset GDD.

D ICD – A wide range of presentation may thus be encountered. For all other comments, please send your remarks via contact us.


It is thus important to investigate all cases of macrocephaly of unknown origins for GCDH deficiency, [2] [3] given the importance of the early diagnosis of Acoduria. Type II glutaric aciduria is a different disease caused by unrelated enzyme deficiencies 5.

Dieta vegetariana en aciduria glutárica tipo I | Anales de Pediatría

Prenatal testing can be performed by genetic and GCDH enzyme analysis of chorionic villi sample or through measuring GA levels in amniotic fluid in at-risk families. Nevertheless, some cases are progressive despite all appropriate treatment 6. Definitive diagnosis of glutaric aciduria glutsrica 1 can be established by DNA-based analysis, looking for mutations in the GCDH gene on chromosome 19 1.

This leads to accumulation of glutaric acid and 3-hydroxyglutaric acid glutaarica the brain and body fluids, including urine hence the name glutaric aciduria.

Glutaric aciduria type 1 – Wikipedia

Case 1 Case 1. All but 1 had severe impairment of psychomotor development and abnormalities on T2-weighted MRI, chiefly bilateral hyperdensities of basal ganglia, atrophy of the temporal lobe, or extensive white matter hypodensities.

We conclude that amino and wciduria acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.

Related Posts