What is PROPIONIC ACIDEMIA (PA, PCCA)?

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]

Gibt es eine deutsche Bezeichnung?

Propionazidurie; Propionyl-CoA-Carboxylase-Mangel; PA

Which enzymes are involved?

Propionyl-CoA carboxylase alpha chain, mitochondrial

PROPIONIC ACIDEMIA (PA, PCCA)

Disease	PROPIONIC ACIDEMIA (PA, PCCA)
Synonym	KETOTIC HYPERGLYCINEMIA; PA; PROPIONIC ACIDEMIA; PCCA
OMIM	606054 OMIM = Online Mendelian Inheritance of Men
Orphanet	35
Protein (UniProt)	Propionyl-CoA carboxylase alpha chain, mitochondrial
Gene locus	13q32.3
ICD	E71.1
Summary	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) Hippuric acid normal/inc (urine) Acetoacetic acid inc (urine) Glycine inc (urine) Tiglylglycine inc (urine) 3-Hydroxybutyrate + Acetoacetate inc (urine) 3-Hydroxyvaleric acid normal/inc (urine) Acetone inc (urine) Acylcarnitine (C2) inc (urine) Ammonia normal/inc (blood) Glutamine n/d (plasma) Glycine inc (plasma) Heptadecanoylcarnitine (C17) inc (blood) Human growth hormone (hGH) dec (plasma) Ketone bodies (urine) normal/inc (urine) L-Carnitine dec (plasma) L-Pyroglutamic acid (5-Oxoproline) inc (urine) Methylcitric acid inc (urine) Partial Thromboplastin Time (PTT) normal/inc (blood) pCO2 normal/dec (blood) pH dec (blood) Propionic acid inc (plasma) Propionyl CoA carboxylase dec (fibroblasts) Propionylcarnitine (C3) inc (urine) Propionylcarnitine (C3) inc (blood) Propionylcarnitine/Palmitoylcarnitine (C3/C16) inc (dried blood spot (DB) Propionylglycine inc (urine) Quick dec (blood) Uric acid normal/inc (plasma)
Symptoms	hypoglycemia decreased body hair anemia ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) behavior, autism or autistic-like cardiomyopathy cardiomyopathy, dilated cerebral atrophy cerebral edema coma decreased body height encephalopathy failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hypotonia ketosis, ketoacidosis lethargy, drowsiness, apathy metabolic acidosis myelination, incomplete, hypomyelination neutropenia (decreased neutrophils) optic atrophy optic neuropathy Organic acids, plasma osteopenia pancreatitis psychomotor retardation pyloric stenosis recurrent or intermittent skin defect renal failure, acute/chronic renal failure, chronic respiratory insufficiency seizures thrombopenia, thrombocytopenia vomiting white matter changes, abnormalities Amino acids, plasma Amino acids, urine behavior, hyperactive, restless cardiac arrhythmia, dysrhythmia cardiomegaly dehydration dermatitis epilepsy glaucoma hyperammonemia hypothermia hypotonia intellectual disability/intellectual developmental disorder mental retardation MRI, brain, gray matter abnormalities [-] MRI, brain, white matter abnormalities [-] onset, childhood onset, infancy onset, neonatal Organic acids, urine pancytopenia psychosis renal dysfunction, renal defects respiratory distress skin defects spastic diplegia/quadriplegia/tetraplegia strokelike episodes tachypnea, hyperpnea, dyspnea, hyperventilation