Pearson syndrome
ORPHA: 699
Overview
mitochondrial metabolism disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Pearson syndrome, sourced from HPO and Orphanet clinical annotations.
Median cleft palateIncreased CSF lactatePostnatal growth retardationCorneal stromal edemaProteinuriaHearing impairmentPtosisCataractPigmentary retinopathyOphthalmoplegiaDiabetes mellitusHypothyroidismDecreased response to growth hormone stimulation testSeizureAtaxiaHypotoniaGlobal developmental delayAbnormality of the liverHepatic steatosisHepatic failureGrowth delayHydrops fetalisPancytopeniaDehydrationDysphagiaChronic diarrheaPoor suckHypophosphatemiaDevelopmental regressionSteatorrheaHypokalemiaHypocalcemiaElevated circulating hepatic transaminase concentrationHypomagnesemiaGlycosuriaLactic acidosisAxial hypotoniaCardiac conduction abnormalityDecreased serum bicarbonate concentrationPancreatic fibrosisMalabsorption of Vitamin B12Renal cystMicrocephalyNystagmusHypoparathyroidismAdrenal insufficiencyHyperpigmentation of the skinCafe-au-lait spotCutaneous photosensitivityHypoplastic spleenMacronodular cirrhosisIncreased circulating lactate concentrationHepatomegalyDecreased total neutrophil countReticulocytosisHyperalaninemiaLacticaciduriaBone marrow hypocellularityAbnormal bone marrow cell morphologySevere infectionElevated lactate:pyruvate ratioRenal insufficiencyAbnormality of the nervous systemSmall for gestational ageAbnormal heart morphologyCardiomyopathyExocrine pancreatic insufficiencySplenomegalyThrombocytopeniaAnemia
Classification & Codes
Orphanet Code
ORPHA:699Pearson syndrome
| Orphanet | ORPHA:699 |
| Treatments | 0 drug(s) |
| Symptoms on record | 70 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO