Orphanet: Argininemia

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Argininemia

Disease definition

A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ORPHA:90

Classification level: Disorder

Synonym(s):
- Arginase deficiency
- Hyperargininemia
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Childhood
ICD-10: E72.2
ICD-11: 5C50.A2
OMIM: 207800
UMLS: C0268548
MeSH: D020162
GARD: 5840
MedDRA: 10062695

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

Detailed information

General public

Article for general public
Czech (2011, pdf) - EIMD
Deutsch (2011, pdf) - EIMD
English (2011, pdf) - EIMD
Español (2011, pdf) - EIMD
Suomi (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
Svenska (2011, pdf) - EIMD
Türkçe (2011, pdf) - EIMD
Urdu (2011, pdf) - EIMD

Guidelines

Emergency guidelines
Français (2023, pdf) - Orphanet Urgences

Clinical practice guidelines
Deutsch (2012) - AWMF
English (2019) - Orphanet J Rare Dis
Français (2021) - PNDS

Anesthesia guidelines
Czech (2020) - Orphananesthesia
English (2020) - Orphananesthesia
Español (2020) - Orphananesthesia

Disease review articles

Clinical genetics review
English (2020) - GeneReviews

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.