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P5CS deficiency

MONDO:0100126

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.

Also known as: P5CS deficiency, delta1-pyrroline-5-carboxylate synthetase deficiency

0 clinical trials for this condition and its sub-types.

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Sub-types

ALDH18A1-related de Barsy syndrome (0) Autosomal dominant complex spastic paraplegia type 9B (0) Autosomal dominant spastic paraplegia type 9 (0) Autosomal recessive complex spastic paraplegia type 9B (0) Cutis laxa, autosomal dominant 3 (0) Hereditary spastic paraplegia 9A (0)

Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Inborn disorder of amino acid metabolism (6) Amino acid metabolism disease (2) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

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