Medium chain 3-ketoacyl-Coa thiolase deficiency
- Synonyms
- Medium Chain 3-Ketothiolase Deficiency
Available tests
4 tests are in the database for this condition.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Dehydration
Dehydration
- MedGen UID: 8273
- Concept ID: C0011175
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Dehydration
- Abnormality of the digestive system
- Decreased liver function
Decreased liver function
- MedGen UID: 65430
- Concept ID: C0232744
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Decreased liver function
- Abnormality of the genitourinary system
- Hereditary myoglobinuria
Hereditary myoglobinuria
- MedGen UID: 44557
- Concept ID: C0027080
- Finding: Finding
Abnormality of the genitourinary system
- Hereditary myoglobinuria
- Abnormality of the musculoskeletal system
- Rhabdomyolysis
Rhabdomyolysis
- MedGen UID: 19775
- Concept ID: C0035410
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Rhabdomyolysis
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