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Summary

Disease	CITRULLINEMIA TYPE II, ADULT-ONSET
Synonym	CITRULLINEMIA, ADULT-ONSET TYPE II CTLN2
OMIM	603471 OMIM = Online Medalian Inheritance of Men
Orphanet	247585
Gene locus	7q21.3
Treatment	arginine-HCl liver transplantation sodium pyruvate
Summary	rare (<1:2000000, 1:19000 in Japan) autosomal recessive mutation in the ASS1 gene

symptoms

behavior, abnormal or bizarre, confusion

behavior, hyperactive, restless

coma

diarrhea

encephalopathy

enuresis nocturna

hyperammonemia

lethargy, drowsiness, malaise or sleep disorder

liver involvement or dysfunction

liver, fatty

onset, adolescent

onset, adulthood

psychosis

seizures

sweating

tremor or twitching

vomiting

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
Citrulline					increased	plasma
MRI, brain, abnormalities -
Ammonia					+€mol/l	blood
Argininosuccinic acid	1.00	200.00			mmol/mol creatinine	urine

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Gross O	Kashtan CE	Treatment of Alport syndrome: beyond animal models	Kidney Int		0	0		2009
Fyfe JC	et al.	The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless	Blood		103	5	1573-1579	2004
Horstmann M	et al.	Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion	Neuropediatrics		34	5	261-264	2003
Lehnert W	Sperl W, Suormala T, Baumgartner ER	Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients	Eur J Pediatr Suppl		153	0	S68-S80	1994
Dancis J	et al.	Hypervalinemia. A defect in valine transamination	Pediatrics		39	6	813-817	1967
Wanders RJA	Barth PG, Schutgens RBH, Tager JM	Clinical and biochemical characteristics of peroxisomal disorders: un update	Eur J Pediatr Suppl		153	0	S44-S48	1994
Jakobs C	Schweitzer S, Dorland B	Galactitol in galactosemia	Eur J Pediatr Suppl 2		154	0	S50-S52	1995
Damen G	et al.	Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic	J Pediatr Gastroenterol Nutr		38	3	282-287	2004
Andres E	et al.	Hematological findings in patients with food-cobalamin malabsorption	Am J Med		115	7	592	2003
Damen G	et al.	Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic	J Pediatr Gastroenterol Nutr		38	3	282-287	2004
Mojon D		Eye diseases in mitochondrial encephalomyopathies	Ther Umsch		58	1	49-55	2001
Pascolat G	et al.	Rhizomelic chondrodysplasia punctata - case report	J Pediatr (Rio J)		79	2	189-192	2003
Wanders RJA	et al.	Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells	J Inher Met Dis Suppl.		18	0	90-99	1995
Wanders RJA	Barth PG, Schutgens RBH, Tager JM	Clinical and biochemical characteristics of peroxisomal disorders: un update	Eur J Pediatr Suppl		153	0	S44-S48	1994
Thony B	et al.	Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients	Hum Gene Ther		7	0	1587-1593	1996
Wanders RJA	et al.	Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells	J Inher Met Dis Suppl.		18	0	90-99	1995
Goldstein DS	et al.	Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency	J Neurochem		64	0	2810-2813	1995
Panzone A	et al.	Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment	Pediatr Res		33	0	125-128	1993
Wanders RJA	Barth PG, Schutgens RBH, Tager JM	Clinical and biochemical characteristics of peroxisomal disorders: un update	Eur J Pediatr Suppl		153	0	S44-S48	1994
Swarna M	et al.	Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh	Biochem Genet		42	0	85-96	2004
Beaudet AL		Aspartoacylase deficiency (Canavan disease)	The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.		3	0	4599-4605	1995
Gibson KM	et al.	Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolyte assays	J Inherit Metab Dis		17	0	732-737	1994
Wanders RJA	Barth PG, Schutgens RBH, Tager JM	Clinical and biochemical characteristics of peroxisomal disorders: un update	Eur J Pediatr Suppl		153	0	S44-S48	1994