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Summary
PROLIDASE DEFICIENCY
170100
OMIM = Online Medalian Inheritance of Men
742
19q13.11

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • corticosteroids
  • human growth hormone (hGH)
  • no specific treatment
  • therapeutic apheresis
  • topical treatment
rare (~50 cases)
auosomal recessive
mutation in the PEPD gene
symptoms
anemia
dermatitis
dysmorphism
hepatomegaly (large liver)
hypertelorism
infections (severe or recurrent)
jaundice
mental retardation
onset, adolescent
onset, childhood
onset, infancy
petechiae
ptosis (drooping eyelid)
recurrent or intermittent skin defect
short stature
skin defects
skin rash, eczematous or seborrhoic
splenomegaly (large spleen)
teleangiectasia
thrombopenia, thrombocytopenia
laboratory finding
Imidodipeptides0.000.00 increasedurineno data
Prolidase decreased activityleucocytes
Immunglobulin IgE increasedplasma
Glycylproline increasedurine
Alanylproline increasedurine
Immunglobulin IgA increasedplasma
Literature
Singal AK,et al.Liver transplantation in the management of porphyriaHepatology6031082-10922014
Mayatepek Eet al.Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type IActa Paediatr8601138-11401997
Hyland Ket al.Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesisNeurology42101980-19881992
Lin CS,Park SB, Krishnan AVPorphyric neuropathyHandb Clin Neurol1150613-6272013
Korenke GCet al.Encephalopathie bei einem Defekt im Metabolismus der biogenen Amine10. Jahrestagung der APS in Fulda8.-10.2.96001996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Li Met al.Treatment of Wilsons disease with penicillamine and zinc salts: a follow-up studyZhonghua Er Ke Za Zhi412119-1222003
Mayatepek ELehmann WDGest+Ârter Abbau von 12- und 15-Hydroxyeikosatetraens+ñure (HETE) bei Patienten mit peroxisomaler Stoffwechselerkrankung10. Jahrestagung der APS in Fulda8.-10.2.96001996
Craig SPet al.Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisationCytogenet Cell Genet612114-1161992
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Takanashi Jet al.Neuroradiologic findings in glutaric aciduria type IIPediatr Neurol200142-1451999
Hyland KClayton PTAromatic L-amino acid decarboxylase deficiency: diagnostic methologyClin Chem38122405-24101992