What is PEARSON SYNDROM (PS)?

rare (1:1000.000) 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],

PEARSON SYNDROM (PS)

Disease	PEARSON SYNDROM (PS)
Synonym	PEARSON MARROW-PANCREAS SYNDROME
OMIM	557000 OMIM = Online Mendelian Inheritance of Men
Orphanet	699
Gene locus	deletions of mtDNA
ICD	D64.0
Summary	rare (1:1000.000) 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],
Laboratory findings	Alanine normal/inc (plasma) 3-Hydroxy-3-methylglutaric acid inc (urine) 3-Hydroxyisobutyric acid normal/inc (urine) 3-Methylglutaconic acid inc (urine) Citrulline normal/dec (plasma) Fumaric acid normal/inc (urine) Hemoglobine dec (blood) Ketone bodies (urine) normal/inc (urine) L-Lactic acid inc (blood) L-Lactic acid normal/inc (urine) Lactate/Pyruvate ratio inc (blood) Leucocytes dec (blood) Malic acid normal/inc (urine)
Symptoms	lactic acidosis sideroblastic anemia anemia brachydactyly failure to thrive hypertonia, spasticity hypotonia leukopenia liver steatosis liver, fatty pancreatic dysfunction, endocrine pancreatic dysfunction, exocrine renal tubular acidosis small for gestational age (SGA), intrauterine growth retardation (IUGR) thrombopenia, thrombocytopenia tubulopathy adrenal insufficiency corneal deposits diabetes mellitus diarrhea early death Fanconi syndrome heart involvement ketosis, ketoacidosis malabsorption mental retardation metabolic acidosis neutropenia (decreased neutrophils) onset, childhood onset, infancy onset, neonatal Organic acids, urine pallor pancreatic insufficiency pancreatitis pancytopenia