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Summary
MAPLE SYRUP URINE DISEASE, MILD VARIANT MSUDMV
615135
OMIM = Online Medalian Inheritance of Men
268162
4q22.2
very rare
autosomal recessive
mutation in the PPM1K gen
symptoms
no consistent clinical signs or symptoms
onset, infancy
onset, neonatal
laboratory finding
L-Isoleucine +€mol/lplasma
Leucine +€mol/lplasma
Valine +€mol/lplasma
Literature
Mistry PK,et al.Gaucher disease: Progress and ongoing challengesMol Genet Metab12018-212017