Acyl-CoA dehydrogenase 9 deficiency
- Synonyms
- Acyl-CoA dehydrogenase family, member 9, deficiency of; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (65 available)
Biochemical Genetics Tests
Genes See tests for all associated and related genes
Also known as: MC1DN20, NPD002, ACAD9
Summary: acyl-CoA dehydrogenase family member 9
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I
- MedGen UID: 393796
- Concept ID: C2677650
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
- Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
- Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Stroke disorder
Stroke disorder
- MedGen UID: 52522
- Concept ID: C0038454
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Congestive heart failure
- Abnormality of the digestive system
- Liver failure
Liver failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
- MedGen UID: 376784
- Concept ID: C1850415
- Finding: Finding
Abnormality of the digestive system
- Liver failure
- Abnormality of the genitourinary system
- Dicarboxylic aciduria
Dicarboxylic aciduria
- MedGen UID: 343550
- Concept ID: C1856432
- Finding: Finding
Abnormality of the genitourinary system
- Dicarboxylic aciduria
- 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
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Cerebral edema
Cerebral edema
- MedGen UID: 2337
- Concept ID: C0006114
- Finding: Pathologic Function
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral edema
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Exercise intolerance
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