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

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

	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

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