cutis laxa autosomal recessive type 3A; mental retardation-joint hypermobility-skin laxity

Genetics

• associated with defects in ALDH18A1

Clinical manifestations

• microcephaly
• progressive neurologic dysfunction
• mental retardation
• progeroid appearance
• joint hypermobility,
• skin laxity & hyperelasticity
• cataracts

Laboratory

• some patients manifest metabolic disturbances
• plasma ammonia: hyperammonemia
• serum ornithine hypoornithinemia
• serum citrulline: hypocitrullinemia
• serum arginine: hypoargininemia
• serum proline: hypoprolinemia

More general terms

• genetic syndrome (multisystem disorder)
• cutis laxa; elastolysis; loose skin; pachydermatocele

Database

• OMIM: https://mirror.omim.org/entry/219150