Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Synonyms
- Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; Cytochrome c oxidase deficiency, French Canadian type; Leigh syndrome, French Canadian type; Leigh syndrome, Saguenay Lac saint Jean type; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (61 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV
- MedGen UID: 866520
- Concept ID: C4020800
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
- Abnormality of blood and blood-forming tissues
- Prolonged partial thromboplastin time
Prolonged partial thromboplastin time
- MedGen UID: 66815
- Concept ID: C0240671
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Prolonged partial thromboplastin time
- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Highly arched eyebrow
Highly arched eyebrow
- MedGen UID: 358357
- Concept ID: C1868571
- Finding: Finding
Abnormality of head or neck
- Low anterior hairline
Low anterior hairline
- MedGen UID: 331280
- Concept ID: C1842366
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hyperglycemia
Hyperglycemia
- MedGen UID: 5689
- Concept ID: C0020456
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Ketosis
Ketosis
- MedGen UID: 7206
- Concept ID: C0022638
- 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
- Persistent lactic acidosis
Persistent lactic acidosis
- MedGen UID: 767452
- Concept ID: C3554538
- Finding: Finding
Abnormality of metabolism/homeostasis
- Severe lactic acidosis
Severe lactic acidosis
- MedGen UID: 374223
- Concept ID: C1839436
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperammonemia
- Abnormality of prenatal development or birth
- Fetal distress
Fetal distress
- MedGen UID: 5164
- Concept ID: C0015930
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Thickened nuchal skin fold
Thickened nuchal skin fold
- MedGen UID: 324644
- Concept ID: C1836940
- Finding: Finding
Abnormality of prenatal development or birth
- Fetal distress
- Abnormality of the cardiovascular system
- Aortic valve atresia
Aortic valve atresia
- MedGen UID: 451016
- Concept ID: C0265843
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bilateral superior vena cava
Bilateral superior vena cava
- MedGen UID: 576402
- Concept ID: C0344659
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Coarctation of aorta
Coarctation of aorta
- MedGen UID: 1617
- Concept ID: C0003492
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- 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
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral atresia disorder
Mitral atresia disorder
- MedGen UID: 91035
- Concept ID: C0344760
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Aortic valve atresia
- Abnormality of the digestive system
- Anteriorly placed anus
Anteriorly placed anus
- MedGen UID: 333160
- Concept ID: C1838705
- Finding: Finding
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets
- MedGen UID: 870573
- Concept ID: C4025021
- Finding: Finding
Abnormality of the digestive system
- Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
- MedGen UID: 376784
- Concept ID: C1850415
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Anteriorly placed anus
- Abnormality of the eye
- Esodeviation
Esodeviation
- MedGen UID: 1641033
- Concept ID: C4551734
- Finding: Disease or Syndrome
Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Esodeviation
- Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Ketonuria
Ketonuria
- MedGen UID: 56402
- Concept ID: C0162275
- Finding: Finding
Abnormality of the genitourinary system
- Hypospadias
- Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Hirsutism
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- CNS demyelination
CNS demyelination
- MedGen UID: 137898
- Concept ID: C0338474
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
- MedGen UID: 333548
- Concept ID: C1840379
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized-onset seizure
Generalized-onset seizure
- MedGen UID: 115963
- Concept ID: C0234533
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Gliosis
Gliosis
- MedGen UID: 4899
- Concept ID: C0017639
- Finding: Pathologic Function
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Increased CSF lactate
Increased CSF lactate
- MedGen UID: 257904
- Concept ID: C1167918
- Finding: Finding
Abnormality of the nervous system
- Motor regression
Motor regression
- MedGen UID: 478627
- Concept ID: C3276997
- Finding: Finding
Abnormality of the nervous system
- Partial agenesis of the corpus callosum
Partial agenesis of the corpus callosum
- MedGen UID: 98127
- Concept ID: C0431368
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Peripheral demyelination
Peripheral demyelination
- MedGen UID: 451074
- Concept ID: C0878575
- Finding: Pathologic Function
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Simplified gyral pattern
Simplified gyral pattern
- MedGen UID: 413664
- Concept ID: C2749675
- Finding: Finding
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- CNS demyelination
- Abnormality of the respiratory system
- Pulmonary edema
Pulmonary edema
- MedGen UID: 11026
- Concept ID: C0034063
- Finding: Pathologic Function
Abnormality of the respiratory system
- Tachypnea
Tachypnea
- MedGen UID: 66669
- Concept ID: C0231835
- Finding: Finding
Abnormality of the respiratory system
- Pulmonary edema
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Failure to thrive
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