Propionic acidemia
| Classification according to ICD-10 | |
|---|---|
| E71.1 | Other disorders of the metabolism of branched amino acids |
| ICD-10 online (WHO version 2019) | |
The propionic acidemia is a very rare congenital to the acidurias associated metabolic disorder in the breakdown of valine , isoleucine , threonine , methionine , fatty acids and cholesterol due to lack of function of propionyl-CoA carboxylase .
Synonyms are: glycinemia, ketotic; Propionic aciduria; Propionyl CoA carboxylase deficiency
The first description is from 1961 by the American pediatrician Barton Childs and colleagues.
distribution
The frequency is given as 1–9 in 1,000,000, inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- Type A with mutations in the PCCA - gene on chromosome 13 locus q32.3.
- Type B with mutations in the PCCB gene on chromosome 3 locus q22.3.
These genes code for the α and β subunits of propionyl-CoA carboxylase .
Classification
Clinically, the following forms can be distinguished:
- Severe form with onset in newborns, vomiting, impaired consciousness, pancytopenia
- intermittent form with a late onset, metabolic imbalance in the event of fever, vomiting or trauma
- chronic progressive form with failure to thrive, a tendency to vomit, psychomotor retardation, hypotonia, cerebral cramps and movement disorders.
Intellectual impairment, optic neuropathy, cardiomyopathy , QT syndrome , pancreatitis , dermatitis and immunodeficiencies can occur as complications .
Clinical manifestations
Clinical criteria are:
- Depending on the form, manifestation is already possible in the neonatal period with metabolic acidosis and often hypoglycaemia , ketosis , vomiting, lethargy and coma
- Neurological failures
- Cardiomyopathy
diagnosis
In the extended newborn screening , increased propionylcarnitine values, increased plasma levels of propionic acid , neutropenia and thrombocytopenia can be detected. In gas chromatography with mass spectrometry coupling , a characteristic pattern is found in the urine . The diagnosis can be confirmed by measuring the enzyme activity .
Differential diagnosis
The following are to be distinguished:
- Cow's milk allergy
- Methylmalonic acidemia
- Multiple carboxylase deficiency
- Neonatal sepsis
- Non-ketotic hyperglycemia
- Organoacidopathy
- Pyloric stenosis
- Celiacia
literature
- JR Soriano, LS Taitz, L. Finberg, CM Edelmann: Hyperglycinemia with ketoacidosis and leukopenia. Metabolic studies on the nature of the defect. In: Pediatrics. Volume 39, Number 6, June 1967, pp. 818-828, PMID 6026548 .
Individual evidence
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e f Propionic acidemia. In: Orphanet (Rare Disease Database).
- ^ B. Childs, WL Nyhan, M. Borden, L. Bard, RE Cooke: Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. In: Pediatrics. Vol. 27, April 1961, pp. 522-538, PMID 13693094 .
- ↑ Propionicacidemia. In: Online Mendelian Inheritance in Man . (English)
