Deficiency of acetyl-CoA acetyltransferase
- Synonyms
- 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-methylacetoaceticaciduria; Beta ketothiolase deficiency; Ketothiolase Deficiency; Mitochondrial acetoacetyl-CoA Thiolase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (93 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Dehydration
Dehydration
- MedGen UID: 8273
- Concept ID: C0011175
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Episodic ketoacidosis
Episodic ketoacidosis
- MedGen UID: 349256
- Concept ID: C1859860
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts
Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts
- MedGen UID: 1052113
- Concept ID: CN375675
- Finding: Finding
Abnormality of metabolism/homeostasis
- Dehydration
- Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
- Abnormality of the genitourinary system
- Elevated urinary 2-methyl-3-hydroxybutyric acid level
Elevated urinary 2-methyl-3-hydroxybutyric acid level
- MedGen UID: 1054164
- Concept ID: CN377435
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urinary 2-methyl-3-hydroxybutyric acid level
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022
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