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Summary
PURINE NUCLEOSIDE PHOSPHORYLASE DIFICIENCY (PNP)
NUCLEOSIDE PHOSPHORYLASE IMMUNODEFICIENCY
613179
OMIM = Online Medalian Inheritance of Men
760
14q13.1
  • bone marrow transplantation
  • no specific treatment
  • transfusions
rare
autosomal recessive
mutation in the PNP gene
symptoms
anemia
ataxia
behavior, abnormal or bizarre, confusion
developmental delay
failure to thrive
hypertonia, spasticity
hypotonia
infections (severe or recurrent)
infections (urinary tract)
lymphopenia
mental retardation
neutropenia (decreased neutrophils)
onset, childhood
onset, infancy
onset, neonatal
pneumonia
spastic diplegia/quadriplegia
splenomegaly (large spleen)
strokelike episodes
tremor or twitching
laboratory finding
Uric acid 1.000.605.50mg/dlserum
Uric acid 820.001026.00decreasedurine
Nucleoside phosphorylase decreased activityfibroblasts
Nucleoside phosphorylase decreased activityerythrocytes
Orotic acid 0.0011.00increasedurine
Inosine increasedserum
Guanosine increasedserum
Inosine0.000.00 increasedurineno data
Guanosine0.000.00 increasedurineno data
2-Deoxyuridine0.000.00 increasedurineno data
2-Deoxyguanosine0.000.00 increasedurineno data
Literature
Mayatepek E5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycleEur J Pediatr1580221-2251999
Kirsch REet al.Variegate porphyriaSemin Liver Dis18033-411998
Mayatepek E5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycleEur J Pediatr1580221-2251999
Mayatepek E5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycleEur J Pediatr1580221-2251999
Whatley SDet al.Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutationAm J Hum Genet654984-9941999
Keller K,et al.Acute episode of cyclic vomiting syndrome preceded by arterial hypertension &ndash Case presentation and reviewNeth J Med738379-3822015
Brown Tonore T,Spree DC, Abell TCyclic vomiting syndrome: a common, underrecognized disorder.J Am Assoc Nurse Pract266340-3472014
Mayatepek E5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycleEur J Pediatr1580221-2251999
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Martinez-Esteve Melnikova A,Sch++¦ppi MG, Korff CRiboflavin in cyclic vomiting syndrome: efficacy in three childrenEur J Pediatr1751131-1352016
Kaul A,Kaul KKCyclic Vomiting Syndrome: A Functional Disorder.Pediatr Gastroenterol Hepatol Nutr184224-2292015