ORPHA:17
Fatal infantile lactic acidosis with methylmalonic aciduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fatal infantile lactic acidosis with methylmalonic aciduria | |
| fr | Acidose lactique infantile fatale avec acidurie méthylmalonique | |
| de | Fatale infantile Laktatazidose mit Methylmalonazidurie | |
| es | Acidosis láctica letal del lactante con aciduria metilmalónica | |
| it | Acidosi lattica infantile fatale con aciduria metilmalonica | |
| nl | Fatale infantiele melkzuuracidose met methylmalonacidurie | Fatale infantiele lactaatacidose met methylmalonzuuracidurie · Mitochondriaal DNA-depletiesyndroom 9 |
| pt | Acidose láctica congénita infantil | |
| pl | Noworodkowa kwasica mleczanowa z acydurią metylomalonową | |
| cs | Fatální kojenecká laktátová acidóza s methylmalonovou acidurií | |
| uk | Фатальний молочнокислий ацидоз немовлят з метилмалоновою ацидурією | |
| zh | 致死性婴儿乳酸性酸中毒伴甲基丙二酸尿症 | |
| tr | Metilmalonik asitüri ile letal infantil laktik asidoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245400 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0009504 | E | validated | |
| UMLS | C4275183 | E | validated | |
| GARD | 3163 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:254803Mitochondrial DNA depletion syndrome, encephalomyopathic form
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUCLG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11449 | ENSG00000163541 | 611224 | 2p11.2 | succinate-CoA ligase GDP/ADP-forming subunit alpha | 19526370[PMID]_21639866[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
64 annotations · validated 2021-07-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002912 | Methylmalonic acidemia | |
| HP:0012120 | Methylmalonic aciduria | |
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0011924 | Decreased activity of mitochondrial complex III | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001298 | Encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0003128 | Lactic acidosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0012087 | Abnormal mitochondrial shape | |
| HP:0000718 | Aggressive behavior | |
| HP:0002104 | Apnea | |
| HP:0001266 | Choreoathetosis | |
| HP:0001332 | Dystonia | |
| HP:0001371 | Flexion contracture | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001276 | Hypertonia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001943 | Hypoglycemia | |
| HP:0002045 | Hypothermia | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0000252 | Microcephaly | |
| HP:0001336 | Myoclonus | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000736 | Short attention span | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0002317 | Unsteady gait | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0004742 | Abnormal renal collecting system morphology | |
| HP:0001680 | Coarctation of aorta | |
| HP:0003219 | Ethylmalonic aciduria | |
| HP:0000047 | Hypospadias | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0010442 | Polydactyly | |
| HP:0003097 | Short femur | |
| HP:0005792 | Short humerus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 31240156[PMID]_28358460[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/17
- This record as JSON: /data/d/17.json