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Table 1 Summary of 12 PA patients with the first onset/diagnosis after infancy

From: Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review

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] 14 m; 14 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 2 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 1 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
  1. M: Male; F: Female; Y: Yes; N: No; NA: not available; d: day; m: month; y: years; Ref.: reference; CSF: cerebrospinal fluid; DIC:disseminated intravascular coagulation; DCM: dilated cardiomyopathy; UCG:ultrasonic cardiogram; LVEF: left ventricular ejection fraction; ECMO: extracorporeal membrane oxygenation; ICU: intensive care unit; TPN: total parenteral nutrition; MPA: methylmalonic propionic acidemia; Homo: Homozygous; Hetero: Heterozygous
  2. *Compound heterozygous mutation
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BMC Medical Genomics

ISSN: 1755-8794

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