CITRULLINEMIA TYPE II, ADULT-ONSET

rare (<1:2000000, 1:19000 in Japan) autosomal recessive mutation in the SLC25A13 gene

Zitrullinämie Typ II; Zitrullinämie, adulte, Typ 2

Calcium-binding mitochondrial carrier protein Aralar2, secondary decreased activity of argininosuccinate synthetase

Question 1

What is  CITRULLINEMIA TYPE II, ADULT-ONSET?

Accepted Answer

rare (<1:2000000, 1:19000 in Japan)
autosomal recessive
mutation in the SLC25A13 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zitrullinämie Typ II; Zitrullinämie, adulte, Typ 2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603471

Question 4

Which enzymes are involved?

Accepted Answer

Calcium-binding mitochondrial carrier protein Aralar2, secondary decreased activity of argininosuccinate synthetase

Disease	CITRULLINEMIA TYPE II, ADULT-ONSET
Synonym	CITRULLINEMIA, ADULT-ONSET TYPE II; CTLN2
OMIM	603471 OMIM = Online Mendelian Inheritance of Men
Orphanet	247585
Protein (UniProt)	Calcium-binding mitochondrial carrier protein Aralar2, secondary decreased activity of argininosuccinate synthetase
Gene locus	7q21.3
ICD	E72.2
Summary	rare (<1:2000000, 1:19000 in Japan) autosomal recessive mutation in the SLC25A13 gene
Laboratory findings	Argininosuccinic acid normal/inc (urine) Ammonia inc (blood) Citrulline inc (plasma) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	hyperammonemia altered consciousness, consciousness disturbance behavior, abnormal or bizarre, confusion behavior, hyperactive, restless coma diarrhea encephalopathy enuresis nocturna episodic course (clinical symptoms) lethargy, drowsiness, apathy liver involvement or dysfunction liver steatosis liver, fatty MRI, brain, abnormalities [-] onset, adolescent onset, adulthood psychosis seizures sweating tremor or twitching vomiting