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Hyperprolinemia type 2

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Hyperprolinemia type 2

Argininemia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ALDH4A1	(0.63)	ARG1

Citations in the biomedical literature:

Hyperprolinemia type 2		Argininemia
	Synonym(s): - Delta1-pyrroline-5-carboxylate dehydrogenase deficiency		Synonym(s): - Arginase deficiency - Hyperargininemia

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538385		External references: 1 OMIM reference - 1 MeSH reference: D020162

Argininemia
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - EEG anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hyperammonemia - Seizures / epilepsy / absences / spasms / status epilepticus
Hyperprolinemia type 2
(no data available)