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Summary
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES HGCLAS
PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY PDHLD
614462
OMIM = Online Medalian Inheritance of Men
401859
4p14
very rare
autosomal recessive
mutation in the LIAS gene
symptoms
apnea
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
early death
encephalopathy
epilepsy
failure to thrive
feeding difficulties, poor feeding
hypotonia
lethargy, drowsiness, malaise or sleep disorder
leukodystrophy
microcephaly (<2 SD for age)
myoclonus
onset, neonatal
psychomotor retardation
pulmonary hypertension
respiratory insufficiency
seizures
laboratory finding
MRI, brain, abnormalities -
Glycine increasedurine
Glycine increasedserum
L-Lactic acid increasedserum
Glutaric acid increasedurine
Literature
Tuschl K,et al.Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in ManAm J Hum Genet9925212016
Mukhtiar K,et al.Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 geneBrain Dev389862-8652016
Chen P,et al.SLC30A10: A novel manganese transporterWorm432016