Amino Acid Metabolism Disorders

Description OMIM Number
3-@HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450
ALBINISM OCULOCUTANEOUS TYPE IA; OCA1A 203100
ALKAPTONURIA 203500
ARGININEMIA 207800
ARGININOSUCCINIC ACIDURIA 207900
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY HYPERAMMONEMIA DUE TO 237300
CARNOSINEMIA 212200
CITRULLINEMIA CLASSIC 215700
CYSTATHIONINURIA 219500
CYSTIC FIBROSIS; CF 219700
CYSTINOSIS, BENIGN OR ADULT NONNEPHROPATHIC TYPE 219750
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900
CYSTINOSIS, NEPHROPATHIC; CTNS 219800
CYSTINURIA; CSNU 220100
D-GLYCERICACIDEMIA 220120
GLUTARICACIDEMIA I 231670
GLUTARICACIDURIA IIA 231680
GYRATE ATROPHY OF CHOROID AND RETINA; GACR 258870
HARTNUP DISORDER 234500
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 253270
HOMOCYSTINURIA 236200
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED 236250
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I 238300
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE II 238310
HYPERLYSINEMIA 238700
HYPERPIPECOLATEMIA 239400
ISOVALERICACIDEMIA; IVA 243500
MAPLE SYRUP URINE DISEASE 248600
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE 277400
METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE DEFICIENCY 251000
METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A 251100
METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B 251110
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 256300
ORNITHINE TRANSCARBAMYLASE DEFICIENCY HYPERAMMONEMIA DUE TO 311250
PHENYLKETONURIA; PKU1 261600
PROPIONIC ACIDEMIA 606054
PYROGLUTAMICACIDURIA 266130
TYROSINE TRANSAMINASE DEFICIENCY 276600
TYROSINEMIA, TYPE I 276700
VITAMIN B12 METABOLIC DEFECT, TYPE 2 277410