deficiëntie van lipoyltransferase 1 (aandoening)
deficiëntie van lipoyltransferase 1
lipoyltransferase 1-deficiëntie
Lipoyl transferase 1 deficiency
A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to Orphanet simple map401862
SNOMED CT to ICD-10 extended map
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified