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DGUOK
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Deoxyguanosine kinase deficiency
| AR | Onset in infancy; progressive liver failure, neurologic abnormalities, poor feeding, hypoglycemia, hyperlactatemia | Similar clinical manifestations, onset, metabolic profile, & disease progression |
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G6PC1
| Glycogen storage disease type 1a (See Glycogen Storage Disease Type I.) | AR | Onset at 3-4 mos; hepatomegaly, growth restriction, hypoglycemia, lactic acidosis, prominent cheeks | Some infants w/TRMU deficiency & hypoglycemia & lactic acidosis were initially presumed to have a glycogen storage disorder. |
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GFM1
| Combined oxidative phosphorylation deficiency 1 (OMIM 609060) | AR | Onset at birth; liver failure, cholestasis, poor feeding, seizures & other neurologic abnormalities, lactic acidosis | Combined oxidative phosphorylation deficiency 1 has early-onset liver failure; however, seizures are more predominant than in TRMU deficiency. |
MCEE
MMAA
MMAB
MMADHC
MMUT
| Isolated methylmalonic acidemia (MMA) | AR | Metabolic acidosis in infancy, hyperammonemia, hypoglycemia, poor weight gain, cardiomyopathy | Similar clinical presentation, though isolated MMA often presents in 1st wks of life. |
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MPV17
|
MPV17-related mtDNA maintenance defect
| AR | Onset in infancy or early childhood; failure to thrive, acute liver failure, acral ulceration, central & peripheral neurologic abnormalities, lactic acidosis | MPV17-related mtDNA maintenance defect has similar manifestations; however, onset is often later & there are more neurologic findings than in TRMU deficiency. |
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MTO1
| Combined oxidative phosphorylation deficiency 10 (OMIM 614702) | AR | Onset in 1st mos of life; hypertrophic cardiomyopathy, poor weight gain, poor feeding, neurologic abnormalities, lactic acidosis | Similarities w/TRMU deficiency are poor feeding & clinical manifestations. |
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MT-TE
| Transient infantile mitochondrial myopathy 1 | Mat | Onset in early infancy; hypotonia, weakness, feeding difficulties, lactic acidosis | Similarities incl infantile reversible mitochondrial disorder primarily causing myopathy. |
PCCA
PCCB
|
Propionic acidemia
| AR | Metabolic acidosis in infancy, hyperammonemia, hypoglycemia, poor weight gain, cardiomyopathy | Similar clinical presentation, though propionic acidemia often presents in 1st wks of life. |
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POLG
| Alpers-Huttenlocher syndrome (See POLG-Related Disorders.) | AR | Onset in infancy; liver failure, poor weight gain, seizures & other neurologic abnormalities, vision loss, hyperlactatemia | POLG-related disorders are a more common mitochondrial cause of liver failure in infancy. |
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SERAC1
| 3-methylclutaconic aciduria w/deafness-dystonia, encephalopathy, & Leigh-like syndrome (See SERAC1 Deficiency.) | AR | Onset in infancy or early childhood; reversible liver failure or hepatic dysfunction, poor weight gain, hypotonia, hearing loss, neurodevelopmental delay or regression, Leigh syndrome, hypoglycemia, & lactic acidosis | Similar presentations of reversible liver failure & metabolic profiles |
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TUFM
| Combined oxidative phosphorylation deficiency 4 (OMIM 610678) | AR | Onset in infancy; hypotonia, respiratory failure, developmental regression, lactic acidosis | May have similar initial presentation to TRMU deficiency |
| >90 genes | Leigh syndrome (See Mitochondrial DNA-Associated Leigh Syndrome and NARP and Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.) | AR
AD
XL
Mat | Onset is generally 3-12 mos & has primarily neurologic features incl hypotonia, cerebellar ataxia, & peripheral neuropathy | Should be considered in infants w/developmental regression & encephalopathy |
