Type I glutaric aciduria, part 1: Natural history of 77 patients

  title={Type I glutaric aciduria, part 1: Natural history of 77 patients},
  author={Kevin A Strauss and Erik G. Puffenberger and Donna L. Robinson and D. Holmes Morton},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
Time is that wherein there is opportunity, and opportunity is that wherein there is no great time. … Healing is a matter of time, but it is also a matter of opportunity. 
Use of guidelines improves the neurological outcome in glutaric aciduria type I
To evaluate the effect of treatment according to current evidence‐based recommendations on the neurological outcome of patients with glutaric aciduria type I (GA‐I), a large number of patients are diagnosed with the disease each year.
Clinical features and course of glutaric aciduria-Report of six cases
This is the first reported case of a colloid cyst in the setting of neurocysticercosis and the risk of morbidity associated with a transcallosal cyst resection was too high.
Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.
In this report, the authors present two pediatric patients with GA-I and discuss the neurosurgical aspects of this rare medical disorder.
Glutaric Acidemia Type 1: Case Report
Medical treatment combined with nutritional support in GA1 managementsigns of serious illness; also dietary treatment control may are needed to reduce progression of the neurological damage.
Anesthetic management in two siblings with glutaric aciduria type 1
The anesthetic management of two sisters with GA‐1, aged 30 and 17 months respectively at the time of surgery, who presented with macrocephaly and psychomotor delay, are reported.
Glutaric Acidemia Type I: Diagnosis and Management
Glutaric acidemia type 1 patients can present with brain atrophy and macrocephaly, often with concurrent acute dystonia triggered by an intercurrent childhood infection and often with fever.
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Implementation of GA1 into newborn screening programs has improved the short‐term outcome, but it remains unclear, however, whether NBS changes the long-term outcome and which variables are predictive.
Glutaric aciduria type I: Outcome in the Republic of Ireland
Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high- risk screen, with no case of striatal degeneration has occurred during the past 14 years in the high-risk screened group.
Nutrition Management of Glutaric Acidemia Type 1
Nutrition management of GA-1 consists of restricting lysine and tryptophan, supplementing L-carnitine, and providing sufficient energy to prevent catabolism.
Management of outpatient anesthesia in an unusually case with glutaric aciduria type‐1
The patients were two sisters with GA-1, who were aged 12 and 16 years, respectively, and presented with macrocephaly and psychomotor delay, and sedation was achieved using bolus of propofol 1 mgÆkg, and the procedures were completed uneventfully.


Glutaric aciduria type I presenting with hypoglycaemia
Three years after diagnosis a child with glutaryl CoA-dehydrogenase deficiency (type I glutaric aciduria) who presented with bilateral subdural hydromas, and progressive choreoathetosis and dysarthria has resolved and treatment with riboflavin and 'lioresal' has prevented any further neurological deterioration.
Ocular findings in glutaric aciduria type 1.
Ocular involvement is common in glutaric aciduria and intraretinal hemorrhages due to GA1 could be misinterpreted as resulting from child abuse, and it is important to include this disorder with the differential diagnosis of child abuse.
Subdural hemorrhage as an initial sign of glutaric aciduria type 1: A diagnostic pitfall
Considering the case of a 9-month-old girl with glutaric aciduria type 1, the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits is recommended.
Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1
Diagnosis and management of glutaric aciduria type I
Diagnosis depends upon the recognition of relatively nonspecific physical findings such as hypotonia, irritability and macrocephaly, and on performance of urine organic acid quantification by gas chromatography–mass spectrometry or selective searches of urine or blood specimens by tandem mass Spectrometry for glutarylcarnitine.
Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral temporal arachnoid cysts
A girl presented to us for further investigation may belong to a seldom-described subset of glutaryl-CoA-deÐcient GA1 homozygotes who, for reasons still unclear, never su†er neurological and psychomotor damage.
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
It is found that GA-I can be diagnosed in the Amish by measurement of urinary glutaric acid concentrations using isotope-dilution gas Chromatography/mass spectrometry, whereas the diagnosis can easily be missed by routine urine organic acid gas chromatography.
Two cases of glutaric aciduria type 1: Clinical and neuropathological findings
Glutaric aciduria type 1: biochemical investigations and postmortem findings
Glutaric aciduria type 1 (GA1; deficiency of glutaryl — CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant and her neurological condition deteriorated progressively until her death at 10.5 months.
Type I glutaric aciduria, part 2: A model of acute striatal necrosis
  • K. Strauss, D. Morton
  • Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2003
This work focuses on the stroke‐like nature of striatal necrosis and its similarity to brain injury that occurs in infants after hypoxia‐ischemia or systemic intoxication with 3‐nitropropionic acid (NPA).