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Summary
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
MMSDH DEFICIENCY
614105
OMIM = Online Medalian Inheritance of Men
289307
14q24.3
very rare
autosomal recessive
mutation in the ALDH6A1 gene
symptoms
cataract
developmental delay
dysmorphism
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
lactic acidosis
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
onset, childhood
onset, infancy
psychomotor retardation
vomiting
laboratory finding
beta-Alanine0.000.00 increasedurineno data
3-Hydroxypropionic acid0.000.00 increasedurineno data
3-Hydroxyisobutyric acid60.00300.00 increasedurine
3-Aminoisobutyric acid0.000.00 increasedurineno data
Methylmalonic acid50.00250.00 mmol/mol creatinineurine
Lactic acid0.000.00 mmol/mol creatinineurine
Literature
Wakai Set al.Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlois type IX. A first japanese caseJ Neurol Sci11601-51993
Tan Het al.Pyridoxine-dependent seizures and microcephalyPediatr Neurol313211-2132004
Kvittingen EATyrosinaemia -- treatment and outcomeJ Inherit Metab Dis180375-3791995
van Spronsen FJet al.Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantationJ Inherit Metab Dis180111-1141995