Orphanet: 3 phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

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3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

Disease definition

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

ORPHA:79351

Classification level: Subtype of disorder

Synonym(s):
- PHGDH deficiency, infantile/juvenile form
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Adolescent, Infancy, Childhood
ICD-10: E72.8
ICD-11: 5C50.6
OMIM: 601815
UMLS: C5680205
MeSH: -
GARD: -
MedDRA: -

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3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

ORPHA:79351

A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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