An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Child; Humans; Male; Fatal Outcome; Preschool; Q3 Literature Search; Diagnosis; Differential; Amino Acid Metabolism; Amino Acids/blood; Inborn Errors/diagnosis; Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis; Ornithine Carbamoyltransferase/deficiency; Orotic Acid/urine
We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.
2006
Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP
Journal Of Inherited Metabolic Disease
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1007/s10545-006-0193-3" target="_blank" rel="noreferrer">10.1007/s10545-006-0193-3</a>
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
Child; Female; Humans; infant; Male; Survival Rate; Adult; Prognosis; Follow-Up Studies; Time Factors; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Nervous System Diseases/etiology; Glutarates/urine; Glutaryl-CoA Dehydrogenase; Amino Acid Metabolism; Finland/epidemiology; Inborn Errors/complications/diagnosis/mortality; Oxidoreductases Acting on CH-CH Group Donors/deficiency; Scandinavia/epidemiology
All 28 patients, 13 females and 15 males, with glutaric aciduria type 1 diagnosed between 1975 and 2001 in Denmark, Finland, Norway and Sweden were identified and studied retrospectively until 2001. Mass screening was not performed. Three were sibling cases. Prenatal enzymatic diagnosis performed in 11 pregnancies led to termination in one. The median follow-up time was 14 years. Six patients had died. At 10 years of age the cumulative survival rate was 89% and at 35 years 44%. The dominating neurological sign was dystonia in 20 and dyskinesia in 4. Three had only slight spastic signs and information was missing in one. The head circumference at birth was significantly larger than normal and increased significantly until 6 months of age. The onset was acute encephalopathic in 24 patients and insidious in 3. From the time of diagnosis, all patients but one were prescribed protein restriction and/or a diet low in lysine and tryptophan. Riboflavine and/or carnitine supplementation were given to 25. Neurological deficits did not improve on the offered treatment. Deterioration may have been averted by intense acute metabolic treatment in a few patients. Dystonia correlated significantly to absence of speech but not to cognitive function. Severe disability, including motor, cognitive and speech functions, correlated significantly with acute onset, dystonia and mortality, and weakly with a deteriorating course, but not with age at onset, diagnosis, or follow-up, nor to head size. Results from future population studies derived from mass screening will have to relate to clinical diagnostic series of the kind presented here.
2004
Kyllerman M; Skjeldal O; Christensen E; Hagberg G; Holme E; Lonnquist T; Skov L; Rotwelt T; von Dobeln U
European Journal Of Paediatric Neurology
2004
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/j.ejpn.2003.12.007" target="_blank" rel="noreferrer">10.1016/j.ejpn.2003.12.007</a>