hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
ORPHA: 88618
Overview
human disease
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, sourced from HPO and Orphanet clinical annotations.
HyperhomocystinemiaElevated circulating hepatic transaminase concentrationHypoalbuminemiaAbnormal circulating methionine concentrationAbnormal circulating homocysteine concentrationStrabismusEsotropiaAtypical behaviorShort attention spanGlobal developmental delayCerebellar hypoplasiaAbnormality of the liverFailure to thriveGrowth delayHydrops fetalisAbnormality of coagulationReduced antithrombin III activityAbnormal facial shapeHypoplasia of the corpus callosumDevelopmental regressionPoor head controlElevated circulating creatine kinase concentrationCNS hypomyelinationMuscular dystrophyProlonged prothrombin timeReduced factor VII activityFloppy infantHypofibrinogenemiaElevated coagulation factor V activityHypoplasia of the ponsDelayed myelinationHyperintensity of cerebral white matter on MRIAbnormality of the dentitionMicrocephalyMuscle weaknessHepatocellular carcinomaCardiomyopathyPes planusVentriculomegalyRespiratory failureHypermethioninemiaSensorimotor neuropathyAbnormality of hair textureWidened subarachnoid space
Classification & Codes
Orphanet Code
ORPHA:88618hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
| Orphanet | ORPHA:88618 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO