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.

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Neither had macrocephaly, organomegaly, cognitive impairment, or acute encephalopathy in childhood. Clinical Synopsis Toggle Dropdown. For this reason, all siblings of an affected child and all future pregnancies should be screened for the disease.

Glutaric aciduria type 1 | Radiology Reference Article |

A subset of patients present with an insidious onset without episodes of acute deterioration 1and others still present as adults with progressive encephalopathy, or are asymptomatic 3.

An Esp Pediatr, 4pp. Edit article Share article View revision history. Antenatal diagnosis of glutaric acidemia. 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 GA1. Two children died in a state aciduri hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated replacement therapy and gastrostomy.

Prognosis depends on a timely diagnosis and consequential management and treatment. Molecular analysis, including gene sequencing and copy number analysis of GCDH can be performed to confirm the diagnosis.

Phenotipic variability in glutaric aciduria type I: With the expansion of convexity subarachnoid spaces, the coursing bridging veins are susceptible to rupture with only minor trauma, and these patients may present with subdural acidufia.


A possible way to prevent the build-up of metabolites is to limit lysine and hydroxylysine degradation, as lysine is one of the most abundant amino acids glutxrica tryptophan is one of the least abundant amino acids.

Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome: GDD is often misdiagnosed. GA1 before the encephalopathic crisis and GA1 after the encephalopathic crisis.


Vegetarian diets and, for younger children, breastfeeding [13] are common ways to limit protein intake without endangering tryptophan transport to the brain. Hum Mol Genet, 4pp. In the Amish community, where GA1 is overrepresented Morton,patients with GA1 did not and still don’t receive tryptophan-free formulas, neither as the sole source of amino acids, nor as a supplement to protein restriction.

Hence, the initial presentation may resemble viral encephalitis or ADEM. Parents and caregivers can provide a more interactive occupational therapy by enabling the child to use his or her own excessive postural muscle tone to his or her own advantage see picture; note the care with which minimal pressure is applied while ensuring safety.

Acute subdural hemorrhage can occur after minor head trauma and in some instances is accompanied by retinal hemorrhages.

These intermediate breakdown products are particularly prone to affect the basal ganglia, causing aciduriaa of the signs and symptoms of glutaric acidemia type 1. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.


Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7.

GDD can exceptionally present with hypoglycemia or acidosis. Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency developed striatal lesions that leave them permanently disabled. They suggested that restriction of dietary protein and limitation of aiduria catabolism, dehydration, and acidosis during illnesses may prevent the onset or progression of neurologic disease in Amish patients with this disorder.

Current Opinion in Critical Care.

Glutaric aciduria type 1

glutaarica In this context, the radiologist needs to be familiar with the imaging findings of glutaric aciduria type I so that an erroneous diagnosis of non-accidental injury is not made. The metabolic symptoms, such as hypoglycemia and metabolic acidosis, were minimal. GA1 causes secondary carnitine deficiency, as glutaric acidlike other organic acidsis detoxified by carnitine.

Elevated glutarylcarnitine can be detected by mass spectrometry in a dried blood spot collected shortly after birth.

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. You can change acciduria settings or obtain more information by clicking here. GA1 was considered as a “treatable disease”.