Our patientt | Pollitt et al.[1] | Shield et al.[21] | Sass et al.[3] | |
---|---|---|---|---|
Gray et al.[20] | Sass et al.[3] | |||
Chambliss et al.[2] | ||||
Patient information | Female | Male | Female | Male |
Mixed European ancestry | Pakistani ancestry | Pakistani ancestry | Mixed European ancestry | |
Parents non-consanguineous | Consanguinity not specified | Parents consanguineous | Parents consanguineous | |
ALDH6A1 mutations | c.514T > C | c.1336G > A | c.184C > T | c.785C > A |
c.1603C > T | c.1336G > A | c.184C > T | c.785C > A | |
Biochemical abnormalities | ↑ plasma/urine MMA | ↑ methionine | ↑ 3-hydroxypropionate | |
↑ lactate | ↑ 3-hydroxyproprionate | ↑ methylcitrate | Mild ↑ 3-hydroxypropionate | |
↑ HIBA | ↑ HIBA | Mild ↑ lactate | ↑ HIBA | |
↑ AIBA | ↑ AIBA | ↑ HIBA | ↑ β-alanine | |
↑ β-alanine | ↑ β-alanine | ↑ AIBA | ||
CNS findings | Severe developmental delays, dystonia and microcephaly. | Normal development | Severe developmental delays, hypotonia and microcephaly. | Early delays, corrected by 25 months. Relative microcephaly. |
Delayed myelination and thin corpus callosum on MRI | No imaging reported | Delayed myelination and thin corpus callosum on MRI | No imaging reported. Frontal cortex microcalcifications on autopsy. | |
Clinical findings | Tall forehead, epicanthal folds, mild hypertelorism, short philtrum, broad halluces, right single palmar crease. | Healthy | Microphthalmia and cataracts, diagnosed as Warburg Micro Syndrome. Narrow, downslanting palpebral fissures, short nose, depressed nasalbridge. | Bulbous nose, long philtrum. |
No reported dysmorphisms | Died at 26 months from hepatoencephalopathy and liver failure following a febrile illness. |