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Summary
D-LACTIC ACIDURIA (DLACD)
LACTIC ACIDURIA DUE TO D-LACTIC ACID, LDHD
245450
OMIM = Online Medalian Inheritance of Men
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16q23.1
very rare (2 patients)
autosomal recessive
mutation in the LDHD gene
symptoms
dysmorphism
inguinal hernia
lactic acidosis
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
onset, infancy
onset, neonatal
laboratory finding
D-Lactic acid 3000.00 mmol/mol creatinineurine
2-Hydroxyisovaleric acid mmol/mol Creaurine
2-Hydroxyisocaproic acid mmol/mol Creaurine
Literature
Bassuk AGet al.Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein geneNeurology6171014-10152003
Abi-Warde MT,et al.Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine diseaseJ Inherit Metab Dis002017