Table 1 Summary of 12 PA patients with the first onset/diagnosis after infancy
PAT | Ref. | Age of onset/diagnosis | Sex | Symptoms/signs related to PA | Image findings | Electrophysiologic findings | Genotype | Treatments | Follow-up | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Neurological | Gastrointestinal | Circulatory | UCG | Brain-MRI | ECG | EEG | Gene | Mutation site | Homo | Hetero | ||||||
1 | This case | 20y; 20y | F | ataxia; cognitive impairment; seizure | N | N | NA | Hyperintensity of bilateral head of caudate and putamen | Sinus rhythm; prolonged QTc interval | NA | PCCB | c.467T>C; c.1316A>G | N | Y* | Protein restriction; vitamin B1, B12, folic acid, biotin and carnitine | Symptoms improve |
2 | [11] | 1.5y; 10.5y | F | N | Feding refusal; vomiting | N | NA | NA | NA | NA | PCCA | c.424C>A | Y | N | NA | NA |
3 | [12] | 3y; 3y | F | Encephalopathy | Abdominal pain; vomiting | N | Normal biventricular size and function | NA | Sinus rhythm; prolonged QTc iinterval | NA | PCCB | c.1606A>G | Y | N | Protein restriction and intravenous nutrition; L-carnitine | No neurologic deficits |
4 | [12] | 27y; 27y | F | NA | N | DCM; cardiogenic shock | Left ventricular hypertrophy: LVEF was 15% | NA | NA | NA | PCCB | c.1606A>G | Y | N | Dietary management; L-carnitine; ECMO; heart transplantation | Followed in the biochemical genetics outpatient clinic |
5 | [8] | 3y; 4y | M | Fully conscious; generalized tonic convulsion | Acute pancreatitis | Decreased blood pressure | Decreased left ventricular contractility, LVEF was 41.0% | NA | Tachycardia; prolonged QTc interval | NA | PCCB | c.1316A>G; exon 8 deletion | N | Y* | TPN fluid without amino acid; MPA formula; metronidazole; antioxidant cocktail | Normal growth and development |
6 | [9] | 2y; 2y | M | Developmental delay; learning disabilities | N | Cardiac arrest | Reduced LVEF | NA | Normal | NA | PCCB | c.1316A>G; c.331C>T | N | Y* | Low-protein diet, smultivitamin, L-carnitine; resuscitation and support | Symptoms improve |
7 | [13] | 14Â m; 14Â m | M | Developmental delay | N | N | NA | NA | NA | NA | PCCB | c.1210G>A | Y | N | NA | Normal development |
8 | [14] | 16y; 16y | M | N | N | Tachycardic; systolic murmur;; dyspnoea; exercise intolerance; | DCM | NA | Prolonged QT cinterval | NA | PCCB | c.1229G>A | Y | N | Diuretics; inotropes | Rapid recovery within 2Â months |
9 | [15] | 1y; 8y | M | Lethargy | N | N | NA | NA | NA | NA | PCCB | c.49C>A | Y | N | Protein restriction; carnitine,biotin, thiamine; | Passed away 1Â week after tracheostomy |
10 | [16] | 14y; 14y | M | Exercise intolerance | Nausea and diarrhea, hepatomegaly, splenomegaly | Bigeminy, S3 gallop; poor peripheral pulses; prolonged capillary refill time; | Dilated left ventricle with diminished function; poor right ventricular function | NA | NA | NA | PCCB | c.763 + 2 T>G; c.1229G>A | N | Y* | Cardiac transplantation | Rapid recovery after cardiac transplantation |
11 | [17] | 4.5y; 4.5y | F | Comatose | N | N | NA | NA | NA | Generalized delta activity | PCCB | L417W; Q293E | N | Y* | Protein restriction, high-caloric nutrition; biotin carnitine, correction of acidosis | NA |
12 | [18] | 5y; 5y | M | Dystonic movements; coma; hypotonia; dysarthria; | Vomiting | N | NA | Bilateral symmetrical hyperintensity and enlargement of basal ganglia | NA | Nonspecic slowing | PCCB | IVS10-11del6; c.1228C>T | N | Y* | Protein restriction; carnitine, biotin; | Died of cardiac arrest |