Orphanet: 3 hydroxyisobutyric aciduria

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3-hydroxyisobutyric aciduria

Disease definition

A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.

ORPHA:939

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Antenatal, Neonatal
ICD-10: E71.1
ICD-11: 5C50.E0
OMIM: 236795
UMLS: C0342737
MeSH: C535312
GARD: 5662
MedDRA: -

Detailed information

General public

Article for general public
Czech (2011, pdf) - EIMD
Deutsch (2011, pdf) - EIMD
English (2011, pdf) - EIMD
Español (2011, pdf) - EIMD
Français (2011, pdf) - EIMD
Hrvatski (2011, pdf) - EIMD
Italiano (2011, pdf) - EIMD
Nederlands (2011, pdf) - EIMD
Polski (2011, pdf) - EIMD
Português (2011, pdf) - EIMD
Türkçe (2011, pdf) - EIMD

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3-hydroxyisobutyric aciduria

ORPHA:939

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

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