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Summary
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
PSAT
610992
OMIM = Online Medalian Inheritance of Men
284417
9q21.2
very rare
autosomal recessive
mutation in the PSAT1 gene
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
early death
feeding difficulties, poor feeding
hypertonia, spasticity
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
laboratory finding
MRI, brain, abnormalities -
L-Serine decreasedplasma
L-Serine decreasedcerebrospinal fluid
Glycine decreasedplasma
Glycine decreasedcerebrospinal fluid
Literature
Schwab KOet al.17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sisterJ Pediatr Endocrinol Metab184403-4112005
Pedersen CBet al.Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiencyJ Biol Chem2784847449-582003
Patell R,et al.Challenges in the successful management of a case of acute intermittent porphyria in IndiaTrop Doct463150-1532015
Kuo HC,et al.Porphyric neuropathies in an acute intermittent porphyria familyNeuropathology363290-2942015