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: Kazigrel Yozshudal
Country: Haiti
Language: English (Spanish)
Genre: Education
Published (Last): 6 April 2017
Pages: 199
PDF File Size: 2.79 Mb
ePub File Size: 4.59 Mb
ISBN: 722-2-16767-842-2
Downloads: 38145
Price: Free* [*Free Regsitration Required]
Uploader: Mikagis

Imaging, therefore, has an important role to play in these situations.

Glutaric aciduria type 1

HIV encephalopathy- AIDS dementia complexpneumococcal meningitishypoadrenal crisis, methylmalonic acidemiapropionic acidemiamiddle cerebral artery occlusion, hypertensive vasculopathy, acute Mycoplasma pneumoniae infection, 3-nitropropionic acid intoxication, late onset familial dystoniacerebrovascular abrupt and severe neonatal asphyxia “selective neuronal necrosis”. Asymptomatic infants had reduced glucose tracer uptake and increased blood volume throughout the gray matter, which may signify predisposition to brain flutarica.

CC HPO: Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: Despite spastic diplegia and moderate choreoathetosis, he had normal intelligence and regularly worked in a carriage and harness repair shop. Glutaric aciduria; a ‘new’ disorder of amino acid metabolism. However, there had been little progression of the neurologic disorder after age 5 years in lgutarica surviving children, and intellect was usually preserved even in children with severe spastic paralysis.

Ada Hamosh – updated: Ascorbic acid, the main hydroxyl radical quencher, works as the cofactor providing the hydroxyl radical required to collagen cross-linking; lysine thus becomes hydroxylysine. These intermediate breakdown products are particularly prone to affect the basal ganglia, causing many of the signs and symptoms of glutaric acidemia type 1.

Collagen, the most abundant protein in the human body, requires great amounts of lysine, the most abundant amino acids in proteins.

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 patients who had a precipitating illness, the age at onset did not predict the outcome. Neither had macrocephaly, organomegaly, cognitive impairment, or acute encephalopathy in childhood. Glutaric aciduria type 1 has a variable presentation, but typically, affected neonates are asymptomatic in the first few months of life 3other than developing macrocephaly.


By using this site, you agree to the Terms of Use and Privacy Acidurla. Pediatric Research, 48pp. Macrocephaly remains the main sign of GA1 for those who aren’t related to GA1 in any way or benefit from no screening program.

Unable to process the form. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.

Phenotipic variability in glutaric aciduria type I: Prognosis depends on a timely diagnosis and consequential management and treatment. Acute striatal necrosis was the major cause of morbidity and mortality, and dystonia caused chronic medical and surgical complications. There had been no apparent progression of his neurologic disease since the single damaging illness at age 3 months. Glutaric aciduria type I gltuarica as Leigh’s encephalopathy and cerebral palsy.

The analyses showed that in patients who did not have a precipitating illness before the first appearance of motor symptoms, the age at onset was significantly associated with the severity of motor impairments and overall clinical outcome.

Vegetarian diet in glutaric aciduria type I. While GCDH deficiency is a rare disease, GLO deficiency is the most common of metabolic diseases affecting children, limiting ascorbic acid biosynthesis to a minute fraction of what other non-primate species synthesize. They suggested that restriction of dietary protein and limitation of protein catabolism, dehydration, and acidosis during illnesses may prevent the onset or progression of neurologic disease in Amish patients with this disorder.

In 10 patients, the disorder was first manifest between 3 and 18 months during an acute infectious illness. Worldwide prevalence is estimated at 1 inbirths. The excessive tone can also be managed with “jolly jumpers” and other aids to the upright stance that do not constrain the child but help him or her gradually tone down the rigidity.


Neuropediatrics, 27pp. The findings implicated mitochondrial fatty acid metabolism as an important aciduris in the development of dystonia, and Glktarica et al. Plasma and urine acylcarnitine analysis can also be informative.

The protein synthesis elicited by the amino acids leads circulating amino acids, including tryptophan, glutxrica be incorporated into proteins. One way to acutely cause depression or bulimia or anxiety in humans, in order to assess an individual’s vulnerability to those disorders, is to supplement with a formula with all or most amino acids except aclduria.

Glutaric aciduria type I is caused by an inherited deficiency of the enzyme glutaryl-CoA dehydrogenase. Glutaric acidemia type 1 occurs in approximately 1 of every 30, to 40, births.

There was a problem providing the content you requested

In the other case, there was a marked increase of glutaric acid in the amniotic fluid as well as a deficiency of glutaryl-CoA dehydrogenase in cultured amniotic cells.

If not available, diagnosis should be suspected on the basis of clinical findings and can be supported by neuroradiological findings including widely open opercula and basal ganglia injury.

Genetic testing is necessary to confirm antenatal diagnosis. Adherence to emergency treatment recommendations is imperative in preventing neuronal damage and subsequent gljtarica dystonia.

Neural Transm Gen Sect.

Orphanet: Aciduria glutarica tipo 1

Investigation of child abuse preceded a correct metabolic diagnosis in some non-Amish children. Mutation analysis in glutaric aciduria type I. MRI is the modality of choice in the assessment of glutaric aciduria type 1.

Management and treatment Daily management comprises a low lysine diet, carnitine supplementation in association with prompt emergency treatment during intercurrent illness.

Two children died in a state of hyperthermia.