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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