Disease

OMIM

UKGTN service*

Arylsulphatase A pseudodeficiency

250100, 607574

YES

Carnitine palmitoyl transferase 2 deficiency, late onset (CPT2)

255110, 600650

YES

Galactosaemia (GALT)

230400, 606999

YES

Glycogen storage disease type 1A (GSD1A)

232220

Glycogen storage disease type 1nonA (GSD1B)

232220, 232240, 602671

YES

Glycogen storage disease type 3 (GSD3)

232400

YES

Hereditary fructose intolerance (HFI)

229600

YES

Leber hereditary optic neuropathy (LHON)

535000, 516000, 516003, 516006

YES

Leigh Syndrome SURF1 analysis

185620, 256000

Long chain 3-hydroxy acyl CoA dehydrogenase deficiency (LCHAD)

600890, 201460, 609016

YES

McArdle Disease (glycogen storage disease type 5, muscle glycogen phosphorylase deficiency)

153460, 232600, 608455

YES

Medium chain acyl CoA dehydrogenase deficiency (MCADD)

 201450, 607008

 YES

Menkes Disease

309400, 300011

YES

Mitochondrial mutations and rearrangements including MELAS, MERRF, NARP, Kearns-Sayre Syndrome, Leigh Syndrome, Pearson syndrome, deafness

530000, 500001, 580000, 516006, 256000, 516006, 516060, 540000, 551500, 545000, 590050, 590060

YES

Myoadenylate deaminase deficiency (MAD)

102770

YES

Niemann-Pick C Disease (NPC)

257220, 607623

Non-ketotic hyperglycinaemia (glycine encephalopathy)

605899, 238300, 238310

YES

Tyrosinaemia type 1

276700

YES