CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Question 1

What is  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A?

Accepted Answer

rare
autosomal recessive
mutation in the ALDH18A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cutis laxa, autosomal-rezessive, Typ 3A; DeBarsy-Syndrom, ALDH18A1-abhängiges

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 219150

Question 4

Which enzymes are involved?

Accepted Answer

Delta-1-pyrroline-5-carboxylate synthase

Disease	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
Synonym	PYRROLINE-5-CARBOXYLATE SYNTHASE DEFICIENCY; DE BARSY SYNDROME
OMIM	219150 OMIM = Online Mendelian Inheritance of Men
Orphanet	35664
Protein (UniProt)	Delta-1-pyrroline-5-carboxylate synthase
Gene locus	10q24.1
ICD	Q87.8
Summary	rare autosomal recessive mutation in the ALDH18A1 gene
Laboratory findings	Ammonia normal/inc (blood) Arginine normal/dec (plasma) Citrulline normal/dec (plasma) Ornithine normal/dec (plasma) Proline normal/dec (plasma)
Symptoms	cataract cutis laxa developmental delay failure to thrive hernia hyperammonemia intrauterine growth retardation joint hypermobilty, dislocations, laxity joint laxity mental retardation onset, infancy onset, neonatal progressive neurologic defect skin hyperelasticity small for gestational age (SGA), intrauterine growth retardation (IUGR) visible veins