Visit Metagene.de!
Summary
PEARSON SYNDROM (PS)
PEARSON MARROW-PANCREAS SYNDROME
557000
OMIM = Online Medalian Inheritance of Men
699
deletions of mtDNA
  • dichloroacetate
rare (<1:1000000)
mitochondrial inheritance
Pearson marrow-pancreas syndrome
(PS) is a rare mitochondrial disorder. A subset of PS patients
develop 3-methylglutaconic aciduria [Sato T et al. 2015],
symptoms
adrenal insufficiency
anemia
birthweight low (small for gestational age)
corneal deposits
diabetes mellitus
diarrhea
early death
failure to thrive
Fanconi syndrome
heart involvement
hypertonia, spasticity
hypotonia
ketosis, ketoacidosis
lactic acidosis
malabsorption
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, childhood
onset, infancy
Organic acids, urine
pancreatic insufficiency
pancreatitis
pancytopenia
thrombopenia, thrombocytopenia
laboratory finding
L-Lactic acid2.006.000.901.80mmol/lblood
3-Methylglutaconic acid 0.009.00increasedurine
3-Hydroxy-3-methylglutaric acid 13.00101.00increasedurine
Lactate/Pyruvate ratio 8.0020.00increasedblood
Hemoglobine 9.0014.00decreasedblood
Leucocytes 6000.0015000.00decreasedblood
Citrulline 10.0045.00normal/decreasedplasma
Ketone bodies normal-increasedurine
Literature
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Longo Net al.Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutationJ Inherit Metab Dis275691-6922004
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
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
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
Ostergaard E,et al.Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutationsBrain1303853-8612007
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
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
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
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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
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
Berry GTet al.Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiencyJ Inherit Metab Dis245587-5952001
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rosenblatt DSInherited disorders of folate transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203111-31281995
Matilainen S,et al.Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletionEur J Hum Genet233325-3302015