" /> Phosphoserine aminotransferase deficiency - CISMeF





Preferred Label : Phosphoserine aminotransferase deficiency;

Symbol : PSATD;

CISMeF acronym : PSATD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Psat deficiency;

Description : Deficiency of phosphoserine aminotransferase (PSAT; EC 2.6.1.52) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome (Hart et al., 2007).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoserine aminotransferase-1 gene (PSAT1, 610936.0001);

Laboratory abnormalities : Decreased plasma serine; Decreased plasma glycine; Decreased CSF serine; Decreased CSF glycine;

Prefixed ID : #610992;

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03/05/2025


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