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Glutaric Aciduria Type 2



  • The second group of patients usually present within the first 24-48 hours of life with hypotonia, tachypnea, hepatomegaly, metabolic acidosis and hypoketotic hypoglycemia.[orpha.net]
  • Reported here is a novel presentation of late onset glutaric aciduria type 2 in two Thai siblings. A 9-year-old boy presented with gradual onset of proximal muscle weakness for 6 weeks.[ncbi.nlm.nih.gov]
  • Patient Presentation An infant girl presented on the first day of life with hypoglycemia and severe ventricular tachyarrhythmias.[doi.org]
  • Milder forms may present in childhood or later. EMA encephalopathy presents in infancy with developmental delay, diarrhea and petechiae.[dnadvent.com]
Increased Energy
  • FAO occurs during prolonged fasting and/or periods of increased energy demands (fever, stress) when energy production relies increasingly on fat metabolism.[dnadvent.com]
Exercise-induced Muscle Pain
  • muscle pain Movement disorder Treatment consists of fasting avoidance, carnitine and riboflavin supplements.[medicalhomeportal.org]


  • As such, their presentation at emergency departments may initiate a protocol for workup of possible child abuse.[clinicaladvisor.com]
  • Diagnostics: Initial workup in the emergency room included the following: A pH of 7.29 with a pCO 2 of 30, pO 2 46, Serum bicarbonate 14.6. Hemoglobin 13.3, WBC 7.7.[eplabdigest.com]


  • Table 1 presents the metabolic parameters in blood and urine during the different phases of 3-HB treatment.[doi.org]
  • Management and treatment Treatment for the more severe phenotypes involves restriction of both fat and protein and reliance on a high carbohydrate diet. Strict avoidance of fasting and of other precipitating stresses is essential.[orpha.net]
  • NaHB is a highly effective and safe treatment that needs further controlled studies.[ncbi.nlm.nih.gov]


  • Prognosis MADD-S is invariably fatal. Milder phenotypes have a more favorable prognosis. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] per day. 7, 8 Our patient subsequently improved clinically; Table 2 shows the course of echocardiographic parameters and N-terminal prohormone of brain natriuretic peptide (NT-proBNP) ( Fig 1 ), an important biomarker for heart failure diagnosis and prognosis[doi.org]


  • Etiology MADD is caused by mutations in the ETFA (15q23-q25), ETFB (19q13.3-q13.4) and ETFDH (4q32-q35) genes which encode the alpha and beta subunits of electron transfer flavoprotein (ETF) and ETF-coenzyme Q oxidoreductase.[orpha.net]
  • 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.[analesdepediatria.org]


  • Summary Epidemiology Birth prevalence is estimated at 1/200,000 but great variation is seen between countries/ethnicities.[orpha.net]
  • Epidemiology Type I – very rare.[patient.info]
Sex distribution
Age distribution


  • The pathophysiology of this condition and potential treatment options are discussed.[academic.oup.com]
  • , who pioneered the use of IVB and demonstrated that it is more effective for treating secondary dystonias in children than the intrathecal route of baclofen delivery. [5] Importantly, 2 of their study subjects with neurogenetic disorders that share pathophysiological[movementdisorders.org]
  • GA1 in some patients may be caused by large deletions or intron mutations that are not susceptible to simple PCR analysis. 11 Direct measurement of GDH activity in fibroblasts or lymphocytes remains the diagnostic method of choice as it reflects the pathophysiology[jmg.bmj.com]


  • Here we present an infant with MADD in whom the previously reported dose of 3-HB did not prevent the acute, severe, metabolic decompensation or progressive cardiomyopathy in the subsequent months.[ncbi.nlm.nih.gov]
  • Therefore, prevention of reaching this catabolic threshold seems to be the best therapeutic option in most, but not all patients.[clinicaladvisor.com]
  • Conclusions The previously recommended dose of 900 mg/kg of 3-HB per day did not prevent the progressive cardiomyopathy.[doi.org]
  • Treatment [ edit ] It is important for patients with MADD to strictly avoid fasting to prevent hypoglycemia and crises of metabolic acidosis ; [2] [3] for this reason, infants and small children should eat frequent meals. [3] Patients with MADD can experience[en.wikipedia.org]

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