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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3b.

Metabolic Disorders with Overlapping MRI Findings in the Differential Diagnosis of PMM2-CDG

GeneDisorder 1MRI FindingsClinical Features
ABHD12 PHARC syndrome (OMIM 612674)Cerebellar atrophyNeurodegeneration, hearing loss, ataxia, retinitis pigmentosa, cataracts
ALDH18A1 Delta-1-pyrroline-5-carboxylate synthetase deficiency 2Cerebellar atrophyFaltering growth, hypotonia, DD, cognitive impairment, cutis laxa, joint hyperlaxity, short stature, microcephaly, cataracts
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency Cerebellar atrophy, abnormalities of myelination, hyperintensity of T1-weighted signals in the globus pallidusDD, hypotonia, hyporeflexia, ataxia, epilepsy
FA2H Fatty acid hydroxylase-associated neurodegeneration Profound pontocerebellar atrophy, confluent periventricular white matter abnormalities, iron accumulationProgressive spastic paraparesis & dysmetria; cognitive decline, optic atrophy, xeroderma
GCDH Glutaric acidemia type 1 Cerebellar atrophy, progressive disturbance of myelination, cortical atrophy, signal changes &/or atrophy of the basal ganglia; striatal injury spreading in a dorsoventral directionProgressive dystonic cerebral palsy; acute brain injury assoc w/infections; choreoathetosis
L2HGDH L-2-hydroxyglutaric aciduria (OMIM 236792)Cerebellar atrophy, leukoencephalopathy, ↑ signal density of dentate nuclei & globi pallidi on T2-weighted images, variety of neurologic malignanciesSeizures, progressive ataxia, spasticity, ID, DD
MVK Mevalonate kinase deficiency (OMIM 610377)Cerebellar atrophyID, ataxia, hypotonia, faltering growth, dysmorphic features, autoinflammation
PLA2G6 Infantile neuroaxonal dystrophy, NBIA (See PLA2G6-Associated Neurodegeneration.)Cerebellar atrophy, signal hyperintensity in the cerebellar cortex, hypointensities in the globus pallidus & substantial nigraProgressive motor & cognitive deterioration, cerebellar ataxia, hypotonia, visual disturbances, progression to spastic tetraplegia; chronic denervation
SLC39A8 SLC39A8 deficiency Cerebellar atrophyHypotonia, DD, recurrent infections, cranial synostosis, hypsarrhythmia, disproportionate dwarfism
See footnote 3.Leigh syndrome (See Mitochondrial Disorders Overview & Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.)Cerebellar atrophy, leukoencephalopathy w/brain stem & spinal cord involvement, T2-weighted hyperintense lesions in putamina, globi pallidi, caudate, & brain stemProgressive neurologic & motor decline

DD = developmental delay; ID = intellectual disability; NBIA = neurodegeneration with brain iron accumulation; PHARC = polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

1.

With the exception of delta-1-pyrroline-5-carboxylate synthetase deficiency (which can be inherited in either an autosomal dominant and autosomal recessive manner) and Leigh syndrome (which can be inherited in an autosomal recessive, autosomal dominant, X-linked, or maternal manner), the disorders in Table 3b are inherited in an autosomal recessive manner.

2.
3.

Many genes (nuclear and mitochondrial) are known to be associated with Leigh syndrome.

From: PMM2-CDG

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