Jaeken Syndrome
| Classification according to ICD-10 | |
|---|---|
| E77.8 | Other disorders of glycoprotein metabolism |
| ICD-10 online (WHO version 2019) | |
The Jaeken syndrome is the congenital disorder of glycosylation type IA (CDG-IA). This is the most common type of CDG syndrome .
Synonyms are:
- Carbohydrate-Deficient Glycoprotein Syndrome Ia
- Congenital defect of glycoprotein biosynthesis type Ia
- Phosphomannomutase-2 deficiency
- CDG syndrome type Ia, CDG-1a
The name refers to the first description in 1980 by the Belgian pediatrician J. Jaeken .
distribution
The frequency is not known, the inheritance is done autosomal - recessive .
root cause
The disease is based on mutations in the PMM2 gene at location 16p13.2.
Clinical manifestations
The disease can appear in very different ways. In infants, failure to thrive with vomiting and diarrhea can be the first signs. Later, encephalopathy with decreased muscle tone, psychomotor retardation , abnormal eye movements, and signs of peripheral neuropathy can occur.
literature
- J. Jaeken, HG van Eijk, C. van der Heul, L. Corbeel, R. Eeckels, E. Eggermont: Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. In: Clinica Chimica Acta . Vol. 144, No. 2-3, December 1984, ISSN 0009-8981 , pp. 245-247, PMID 6543331 .
- B. Shanti, M. Silink, K. Bhattacharya, NJ Howard, K. Carpenter, M. Fietz, P. Clayton, J. Christodoulou: Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. In: Journal of Inherited Metabolic Disease . Vol. 32 Suppl 1, December 2009, pp. S241-S251, ISSN 1573-2665 , doi : 10.1007 / s10545-009-1180-2 , PMID 19396570 .
- A. Malhotra, A. Pateman, R. Chalmers, D. Coman, S. Menahem: Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. In: Fetal Diagnosis and Therapy . Vol. 25, No. 1, 2009, ISSN 1421-9964 , pp. 54-57, doi : 10.1159 / 000196816 , PMID 19176971 .
Individual evidence
- ↑ a b c Jaeken syndrome. In: Orphanet (Rare Disease Database).
- ↑ J. Jaeken, M. Vanderschueren-Lodeweyckx, P. Casaer, L. Snoeck, L. Corbeel, E. Eggermont, R. Eeckels: Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? In: Pediatric Research . (suppl.) Vol. 14, 1980, p. 179.
- ↑ Jaeken Syndrome. In: Online Mendelian Inheritance in Man . (English).
