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Table 1 Clinical features of propionic acidaemia cohort and MR Imaging findings

From: MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

  Neonatal CVVH? Liver Transplant (age, years) Other diagnoses Age at MRS (years) Status at time of MRS Metabolic Drugs & Dietary Restrictions Acute encephalopathic episodes: complications MRI findings
       Maintenance Acute   Basal ganglia Other features
1 Yes    1.5 Stable LC, SB, PR    Normal  
2 Yes   Hypo-throidism 1 Enceph. SP, SB, LC, T, M, PR SP, SB, NC Sepsis & hyper-ammonaemia, Acutely swelling caudate, dentate  
     1.2 Stable SB, LC, T, PR    Resolving swelling Delayed myelination, enlarged ventricles
     3 Enceph. SB, LC, T, PR   Cardiomyopathy, pneumonia Acute swelling caudate, putamen, dentate Delayed myelination, enlarged ventricles, hippocampal atrophy
3 No   Epilepsy 9.5 Enceph. SB, LC, PR SB LC Rhabdomyolysis Cystic encephalomalacia Enlarged ventricles/cerebral volume loss
4 Yes   Hypo-thyroidism 4 Stable SB, SP, LC, PR    Normal  
     6 Enceph. SB, SP, LC, PR SP, SB, LC Pneumonia Acute swelling caudate + putamen Cerebral volume loss, small hippocampi
5 Yes    0.6 Stable SB, LC, PR    Normal Mild ventricular dilation
6 No    3 Stable SB, SP, LC, PR    Normal Hippocampal sclerosis
7 No Yes (1.3)   15 Stable Anti-rejection    Normal  
8 No Yes (2.5) Myoclonic epilepsy 13 Stable Anti-rejection LC    Normal Mild ventricular enlargement. Unilateral mesial temporal sclerosis
  1. MRS, magnetic resonance spectroscopy; CVVH, Continuous veno-venous haemofiltration; LC, L-carnitine; SP, Sodium Phenylbutyrate; SB, Sodium Benzoate; M, metronidazole; T, thyroxine; NC, N-Carbamylglutamate; PR, dietary protein restriction; Enceph., denotes acute encephalopathic episode