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Summary
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (PHGDH)
PHGDH DEFICIENCY
601815
OMIM = Online Medalian Inheritance of Men
35705
1q12
  • amino acid mixture
  • glycine
  • serine supplementation
very rare
autosomal recesive
homozygous or compound heterozygous mutation in the PHGDH gene
disorder of L-serine biosynthesis
symptoms
Amino acid, spinal fluid
Amino acids, plasma
anemia
ataxia
cataract
feeding difficulties, poor feeding
growth retardation
hypertonia, spasticity
hypogonadism
mental retardation
microcephaly (<2 SD for age)
motor retardation
nystagmus
onset, infancy
psychomotor retardation
seizures
spastic diplegia/quadriplegia
thrombopenia, thrombocytopenia
laboratory finding
L-Serine 20.0040.00decreasedcerebrospinal fluid
3-Phosphoglycerate dehydrogenase 100.00decreased activityfibroblasts
L-Serine 100.00395.00decreasedplasma
Glycine 100.00350.00normal/decreasedplasma
Glycine 1.9010.00decreasedcerebrospinal fluid
EEG abnormalities -
MRI, brain, abnormalities -
Literature
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Seijo-Martinez Met al.L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findingsArch Neurol624666-6702005
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Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Lewis SMet al.Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disordersAm J Med Genet521419-4261994
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Topcu Met al.L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1Hum Mol Genet13222803-28112004
Stute Met al.Joubert syndrome combined with unilateral facial paralysis: a rare variant of Joubert syndromeKlin Pediatr2065397-4011994
Mittre Herve MHKottler ML, Pura MHuman gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiencyHum Genet11422242004
Kuo HC,et al.Porphyric neuropathies in an acute intermittent porphyria familyNeuropathology363290-2942015