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Table 1 Clinical and biochemical summary of molecularly confirmed patients in the literature

From: Mutations in ALDH6A1encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

 

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.

  1. HIBA: 3-hydroxyisobutyric acid; AIBA: 3-aminoisobutyric acid.