| PROPIONIC ACIDEMIA (PA, PCCB) | |
| KETOTIC HYPERGLYCINEMIA; PA; PROPIONIC ACIDEMIA; PCCB | |
|
606054
OMIM = Online Mendelian Inheritance of Men | |
|
35 | |
| Propionyl-CoA carboxylase beta chain, mitochondrial | |
| rare (1:50000-200000) autosomal recessive prenatal diagnosis in amnion fluid Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis [Cappucio G et al. 2016] | |
| Laboratory findings | 2-Methyl-2,3-dihydroxybutyric acid n/i (urine) 3-Hydroxypropionic acid inc (urine) Acetoacetic acid inc (urine) Tiglylglycine inc (urine) 3-Hydroxybutyrate + Acetoacetate inc (urine) 3-Hydroxyvaleric acid inc (urine) Acetone inc (urine) Acylcarnitine (C2) inc (urine) Ammonia inc (blood) Glutamine n/d (plasma) Glycine inc (plasma) Hippuric acid inc (urine) Human growth hormone (hGH) dec (plasma) Ketone bodies (urine) inc (urine) L-Carnitine dec (plasma) L-Pyroglutamic acid (5-Oxoproline) inc (urine) Methylcitric acid inc (urine) Partial Thromboplastin Time (PTT) inc (blood) pCO2 inc (blood) pH dec (blood) Propionic acid inc (plasma) Propionyl CoA carboxylase dec (fibroblasts) Propionylcarnitine (C3) inc (plasma) Propionylcarnitine (C3) inc (urine) Propionylcarnitine/Palmitoylcarnitine (C3/C16) inc (dried blood spot (DB) Propionylglycine inc (urine) Quick dec (blood) |
| Symptoms | Amino acids, plasma Amino acids, urine anemia ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) behavior, autism or autistic-like behavior, hyperactive, restless cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy cardiomyopathy, dilated cerebral atrophy cerebral edema coma decreased body hair decreased body height dehydration dermatitis encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding glaucoma growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hyperammonemia hypoglycemia hypothermia hypotonia intellectual disability/intellectual developmental disorder ketosis, ketoacidosis lethargy, drowsiness, apathy mental retardation metabolic acidosis MRI, brain, gray matter abnormalities [-] MRI, brain, white matter abnormalities [-] myelination, incomplete, hypomyelination neutropenia (decreased neutrophils) onset, childhood onset, infancy onset, neonatal optic atrophy Organic acids, plasma Organic acids, urine osteopenia pancreatitis pancytopenia psychomotor retardation psychosis pyloric stenosis recurrent or intermittent skin defect renal dysfunction, renal defects renal failure, acute renal failure, acute/chronic respiratory distress respiratory insufficiency seizures skin defects spastic diplegia/quadriplegia/tetraplegia strokelike episodes tachypnea, hyperpnea, dyspnea, hyperventilation thrombopenia, thrombocytopenia vomiting white matter changes, abnormalities |