P5CS deficiency
An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.
MONDO:0017355
inborn disorder of proline metabolism
is_a
MONDO:0017356
inborn disorder of ornithine metabolism
is_a
P5CS deficiency
exact
delta1-pyrroline-5-carboxylate synthetase deficiency
exact
SPAC821.11 SPAC17H9.13c