CITRULLINEMIA TYPE II, NEONATAL ONSET (NICCD)

Question 1

What is  CITRULLINEMIA TYPE II, NEONATAL ONSET (NICCD)?

Accepted Answer

rare
autosomal recessive

mutation in the SLC25A13 gene

The profiles of blood amino acid in early neonates with NICCD present
the increased levels of multiple amino acids including citrulline,
tyrosine, methionine and phenylalanine, and decreased ratio of Ala/Cit [Tang CF 2019]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Zitrullinämie Typ II; Neonatale intrahepatische Cholestase durch Citrin-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 605814

Question 4

Which enzymes are involved?

Accepted Answer

citrin deficiency, calcium-binding mitochondrial carrier protein Aralar2

Disease	CITRULLINEMIA TYPE II, NEONATAL ONSET (NICCD)
Synonym	NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY, NICCD
OMIM	605814 OMIM = Online Mendelian Inheritance of Men
Orphanet	247598
Protein (UniProt)	citrin deficiency, calcium-binding mitochondrial carrier protein Aralar2
Gene locus	7q21.3
ICD	E72.2
Summary	rare autosomal recessive mutation in the SLC25A13 gene The profiles of blood amino acid in early neonates with NICCD present the increased levels of multiple amino acids including citrulline, tyrosine, methionine and phenylalanine, and decreased ratio of Ala/Cit [Tang CF 2019]
Laboratory findings	Citrulline inc (plasma) D-Galactose normal/inc (plasma) 4-Hydroxyphenyllactic acid inc (urine) Acylcarnitine (C2) inc (blood) alpha-Fetoprotein inc (plasma) Bilirubin inc (serum) D-Galactose inc (urine) L-Carnitine inc (plasma) L-Threonine inc (plasma) L-Tyrosine inc (plasma) Methionine inc (plasma) Palmitoylcarnitine (C16) inc (blood) Phenylalanine inc (dried blood spot (DB) Propionylcarnitine (C3) inc (blood) Protein, total dec (serum) Stearoylcarnitine (C18) inc (blood) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	cholestasis coma developmental delay encephalopathy jaundice liver involvement or dysfunction ataxia bleeding tendencies, hemorrhages cirrhosis or fibrosis of liver Coagulopathy/Coagulation factors failure to thrive hepatomegaly (large liver) hypoglycemia liver steatosis liver, fatty onset, neonatal