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Glutaric Aciduria


Presentation

  • We present a 14-year-old boy with a background of autistic spectrum disorder who presented with severe muscle weakness and significant rhabdomyolysis.[ncbi.nlm.nih.gov]
Skin Lesion
  • Supplementation of a high-caloric, protein-rich diet together with zinc, selenium and vitamins led to a prompt improvement of the skin lesions.[ncbi.nlm.nih.gov]
Dyslexia
  • The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia.[ncbi.nlm.nih.gov]
Altered Mental Status
  • Affected individuals may present with unexplained altered mental status, atypical movements, seizures, or irritability. Classically, patients develop dystonia and athetosis with relative sparing of intellect (11).[vaccinetruth.org]
Waddling Gait
  • In the course of evaluating a 17 months old boy with waddling gait and swollen joints, we found generalized, severe ossification defects in the metaphyses of his long bones.[ncbi.nlm.nih.gov]
Pendular Nystagmus
  • Pendular nystagmus was found in two pediatric GA-1 patients. The corresponding pathology was optic atrophy in one patient, but remained undetermined in the other patient. The frequency of encephalopathic crisis decreased substantially following NBS.[ncbi.nlm.nih.gov]

Workup

  • As such, their presentation at emergency departments may initiate a protocol for workup of possible child abuse.[cancertherapyadvisor.com]
Hypsarrhythmia
  • Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarrhythmia and spasms.[ncbi.nlm.nih.gov]
  • J Am Diet Assoc 94:183–191 PubMed CrossRef Google Scholar Young-Lin N, Shalev S, Glenn OA et al (2013) Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.[link.springer.com]
Liver Biopsy
  • Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation.[ncbi.nlm.nih.gov]

Treatment

  • In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency treatment during acute episode of inter current illnesses.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis Prognosis depends on a timely diagnosis and consequential management and treatment. GDD is now regarded as a treatable neurometabolic disorder. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis: A majority of patients are diagnosed after the development of striatal necrosis and prognosis for these patients is poor. Respiratory problems are the major cause of early mortality.[wohproject.org]
  • It is also important for counseling parents regarding the prognosis and avoid unnecessary interventions. References 1. Kamate M, Patil VD, Chetal V, Hattiholi V. Glutaric aciduria type I - An easily diagnosable and treatable metabolic disorder.[mjdrdypu.org]

Etiology

  • After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder.[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

Epidemiology

  • At that time many important questions on epidemiology, diagnostic quality, natural history, treatment, and cost effectiveness were not sufficiently answered. In particular, it was rather unknown whether early treatment improves the outcome.[mdpi.com]
  • Summary Epidemiology Worldwide prevalence is estimated at 1 in 100,000 births. GDD is more prevalent in the old order Amish community, Canadian Oji-Cree natives, Irish travelers and Lumbee Native Americans.[orpha.net]
  • Identification of infant food as a vehicle in a nosocomial outbreak of Citrobacter freundii : Epidemiological subtyping by allozyme, whole-cell protein and antibiotic resistance. J Appl Bacteriol 1994;76:553-8. [ PUBMED ] 10.[jpgmonline.com]
Sex distribution
Age distribution

Pathophysiology

  • These observations refine our understanding of the lysine-tryptophan degradation pathway and have important implications for the pathophysiology of GA1.[ncbi.nlm.nih.gov]

Prevention

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