Acetyl-CoA acetyltransferase-2 deficiency
- Synonyms
- ACAT2 DEFICIENCY; Acetoacetyl CoA thiolase, cytosolic; Acetocoenzyme A acetyltransferase 2
Available tests
Clinical tests (10 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased serum pyruvate
Increased serum pyruvate
- MedGen UID: 376596
- Concept ID: C1849488
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Chorea
Chorea
- MedGen UID: 3420
- Concept ID: C0008489
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Chorea
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