First described in 1972, more than 30 people have been reported in the medical literature with this inborn error of metabolism.
22.
The term " inborn error of metabolism " was coined by a British physician, Archibald Garrod ( 1857 1936 ), in 1908.
23.
AGAT deficiency is, along with GAMT and creatine transporter defect, one of three inborn errors of the creatine biosynthesis / transport pathway.
24.
Mitochondrial acetoacetyl-CoA thiolase deficiency, known earlier as ?-ketothiolase deficiency, is an inborn error of metabolism involving isoleucine catabolism and ketone body metabolism.
25.
Nonketotic hyperglycinemia ( NKH ) is an inborn error of metabolism caused by deficiency in the glycine cleavage system ( GCS ).
26.
Lactic acidosis sometimes occurs without hypoxia, for example, in rare inborn errors of metabolism where mitochondria do not function at full capacity.
27.
Up to 250 metabolites that are excreted in the urine are analysed using the GC-MS for the detection of inborn errors of metabolism.
28.
It can detect as many as 110 inborn errors of metabolism ( " IEMs ", or metabolic disorders ) from a urine specimen.
29.
Mutations in the DHTKD1 gene are associated with alpha-aminoadipic and alpha-ketoadipic aciduria, an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation.
30.
ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1 : 18, 000 and 1 : 50, 000.
