Neonatal nonketotic hyperglycinemia.
Indian J Pediatr
;
2007 Dec; 74(12): 1124-6
Article
in English
| IMSEAR
| ID: sea-79675
ABSTRACT
Nonketotic hyperglycinemia has variable phenotypic expressions and a poor prognosis. We report a case of severe neonatal nonketotic hyperglycinemia, who started convulsing immediately after birth. His glycine index was 0.38 and he did not respond to treatment with sodium benzoate and dextromethorphan. Hypotonia, transient hyperammonemia and metabolic acidosis were associated findings.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Seizures
/
Humans
/
Male
/
Infant, Newborn
/
Fatal Outcome
/
Risk Assessment
/
Disease Progression
/
Hyperglycinemia, Nonketotic
/
Rare Diseases
/
Amino Acid Metabolism, Inborn Errors
Type of study:
Etiology study
/
Prognostic study
/
Risk factors
Language:
English
Journal:
Indian J Pediatr
Year:
2007
Type:
Article
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