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Fatal infantile lactic acidosis with methylmalonic aciduria

ORPHA:17 · Disease · Disorder

HPO 表現型（共 64 項）

Obligate (100%)(2)

  • Methylmalonic acidemiaHP:0002912
  • Methylmalonic aciduriaHP:0012120

Very frequent (99-80%)(5)

  • 3-Methylglutaconic aciduriaHP:0003535
  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263

Frequent (79-30%)(16)

  • Cerebral atrophyHP:0002059
  • Decreased activity of mitochondrial complex IHP:0011923
  • Decreased activity of mitochondrial complex IIIHP:0011924
  • Decreased activity of mitochondrial complex IVHP:0008347
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • EncephalopathyHP:0001298
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • Hepatic steatosisHP:0001397
  • HepatomegalyHP:0002240
  • Increased circulating lactate concentrationHP:0002151
  • Increased CSF lactateHP:0002490
  • Intellectual disabilityHP:0001249
  • Lactic acidosisHP:0003128
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(30)

  • Abnormal mitochondrial shapeHP:0012087
  • Aggressive behaviorHP:0000718
  • ApneaHP:0002104
  • ChoreoathetosisHP:0001266
  • DystoniaHP:0001332
  • Flexion contractureHP:0001371
  • Gastroesophageal refluxHP:0002020
  • HyperhidrosisHP:0000975
  • Hyperkinetic movementsHP:0002487
  • HypertoniaHP:0001276
  • Hypertrophic cardiomyopathyHP:0001639
  • HypoglycemiaHP:0001943
  • HypothermiaHP:0002045
  • Increased intramyocellular lipid dropletsHP:0012240
  • Increased variability in muscle fiber diameterHP:0003557
  • LeukoencephalopathyHP:0002352
  • MicrocephalyHP:0000252
  • MyoclonusHP:0001336
  • PtosisHP:0000508
  • Ragged-red muscle fibersHP:0003200
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory distressHP:0002098
  • RhabdomyolysisHP:0003201
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short attention spanHP:0000736
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Unsteady gaitHP:0002317
  • VomitingHP:0002013

Very rare (<4-1%)(11)

  • Abnormal renal collecting system morphologyHP:0004742
  • Coarctation of aortaHP:0001680
  • Ethylmalonic aciduriaHP:0003219
  • HypospadiasHP:0000047
  • Interrupted aortic archHP:0011611
  • Orofacial cleftHP:0000202
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • PolydactylyHP:0010442
  • Short femurHP:0003097
  • Short humerusHP:0005792