Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of 3-PGDH deficiency [DS:H01079]. Mutations in the PSAT1 gene have been identified.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H01082 Phosphoserine aminotransferase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06033 Glycine, serine and arginine metabolism
H01082 Phosphoserine aminotransferase deficiency
Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features. NLS is genetically heterogeneous and can be caused by mutations in the genes encoding enzymes of the L-serine biosynthesis pathway.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02117 Neu-Laxova syndrome
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06033 Glycine, serine and arginine metabolism
H02117 Neu-Laxova syndrome
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjold M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M
Title
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
