Abstract |
We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver impairment, hypothyroidism and a pericardial effusion. The second patient, also female, had a milder disease with single organ involvement, presenting as isolated hyperinsulinaemic hypoglycaemia, not associated with any cognitive impairment. The third patient, a boy presented with multi-organ manifestations including congenital hypothyroidism, persistent hyperinsulinaemic hypoglycaemia, coagulopathy, olivopontocerebellar hypoplasia and recurrent pancreatitis. All three patients had a type 1 serum transferrin isoform pattern, and were subsequently found to have low phosphomannomutase activity, confirming the diagnosis of CDG type Ia. Our findings emphasize that CDG should be considered as a differential diagnosis in patients with persistent hyperinsulinaemic hypoglycaemia and that it may even occasionally be the leading symptom in CDG Ia.
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Authors | B Shanti, M Silink, K Bhattacharya, N J Howard, K Carpenter, M Fietz, P Clayton, J Christodoulou |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 32 Suppl 1
Pg. S241-51
(Dec 2009)
ISSN: 1573-2665 [Electronic] United States |
PMID | 19396570
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Phosphotransferases (Phosphomutases)
- phosphomannomutase 2, human
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Topics |
- Brain
(pathology)
- Child, Preschool
- Congenital Disorders of Glycosylation
(complications, diagnosis, genetics)
- Congenital Hyperinsulinism
- Diagnosis, Differential
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Multiple Organ Failure
(etiology)
- Mutation
- Nesidioblastosis
(diagnosis, enzymology, etiology)
- Olivopontocerebellar Atrophies
(etiology, pathology)
- Phosphotransferases (Phosphomutases)
(deficiency, genetics)
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