multiple mitochondrial dysfunctions syndrome 1
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011582), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset · Neonatal death · Childhood onset
HPO, annotations 2026-09-02
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 1 of 1 reported patient
- Alpha-aminoadipic aciduriaHPOHP:0410309
- 10 of 10 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 1 of 1 reported patient
- Decreased activity of mitochondrial respiratory chainHPOHP:0008972
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating 2-hydroxybutyric acid concentrationHPOHP:0033418
- 1 of 1 reported patient
Show the remaining 31
- Increased CSF glycine concentrationHPOHP:0500230
- 8 of 8 reported patients
- Occasional (5% to 29% of cases)
- Increased CSF lactateHPOHP:0002490
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Increased urine alpha-ketoglutarate concentrationHPOHP:0012402
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 4 of 4 reported patients
- LacticaciduriaHPOHP:0003648
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NFU1HGNC:16287
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: multiple mitochondrial dysfunctions syndrome 1
- Also called
- fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1multiple mitochondrial dysfunctions syndrome type 1NFU1 deficiencyNFU1 fatal multiple mitochondrial dysfunctions syndrome