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11-BETA-HYDROXYLASE DEFICIENCY (CYP11B1)

11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17)

2,4-DIENOYL-CoA REDUCTASE DEFICIENCY

2-AMINOADIPIC ACIDURIA

2-HYDROXYGLUTARIC ACIDEMIA (L)

2-HYDROXYGLUTARIC ACIDURIA (D) TYPE I

2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II

2-KETOADIPIC ACIDEMIA

2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY

2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

21-HYDROXYLASE DEFICIENCY (CYP21)

27-HYDROXYLASE DEFICIENCY

3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY

3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY

3-HYDROXYDICARBOXYLIC ACIDURIA

3-HYDROXYISOBUTYRIC ACID DEHYDROGENASE DEFICIENCY

3-HYDROXYISOBUTYRIC ACIDURIA

3-METHYL-CROTONYL-GLYCINURIA

3-METHYLGLUTACONIC ACIDURIA (TYPE I)

3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED

3-METHYLGLUTACONIC ACIDURIA (TYPE III)

3-METHYLGLUTACONIC ACIDURIA (TYPE IV)

3-METHYLGLUTACONIC ACIDURIA (TYPE V)

3-METHYLGLUTACONIC ACIDURIA, NOVEL SUBTYPE

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY

5-OXOPROLINASE DEFICIENCY

ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)

ACATALASEMIA

ACERULOPLASMINEMIA

ACRODERMATITIS ENTEROHEPATHICA

ACTH DEFICIENCY, ISOLATED

ACUTE INTERMITTEND PORPHYRIA (AIP)

ACYL CoA DEHYDROGENASE 9 DEFICIENCY

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT)

ADENOSINE DEAMINASE (ADA)

ADENYLOSUCCINASE DEFICIENCY

ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED

ADRENOLEUKODYSTROPHY, NEONATAL

ADRENOLEUKODYSTROPHY, X-LINKED

ALEXANDER DISEASE

ALKAPTONURIA. HOMOGENTISIC ACID OXIDASE DEFICIENCY

ALPERS DISEASE

ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)

ALPHA-MANNOSIDOSIS

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE

ALPORT SYNDROME

AMINOACYLASE I DEFICIENCY

APOLIPOPROTEIN C-II DEFICIENCY

ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY

ARGININOSUCCINIC ACIDURIA (ASL)

AROMATASE DEFICIENCY

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

ARTEFACTS-BACTERIAL CONTAMINATION, EXCRETION OF ORGANIC ACIDS (ARTEFACTS) [DD]

ARTEFACTS-PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS [DD]

ASPARTYLGLUCOSAMINURIA

ASPHYXIA [DD]

BECKER MUSCULAR DYSTROPHY

BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME

BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM)

BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)

BETA-KETOTHIOLASE DEFICIENCY

BETA-MANNOSIDOSIS

BETA-MERCAPTOLACTATE-CYSTEINE DISULFIDURIA

BIOTINIDASE DEFICIENCY

BLUE DIAPER SYNDROME

CANAVAN DISEASE

CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS)

CARDIOMYOPATHY, FAMILIAL DILATED

CARNITINE DEFICIENCY, MYOPATHIC

CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (I)

CARNITINE PALMITOYL TRANSFERASE DEFICIENCY (II)

CARNITINE TRANSPORTER DEFECT. PRIMARY SYSTEMIC CARNITINE DEFICIENCY

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

CARNOSINURIA, CARNOSINEMIA

CHILD SYNDROME

CHOLESTERYL ESTER STORAGE DISEASE

CHONDRODYSPLASIA PUNCTATA, CONRADI HUNERMANN

CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT

CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE

CHONDRODYSTROPHIA CALCIFICANS CONGENITA

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE SYNDROM

CITRULLINEMIA TYPE I

CITRULLINEMIA TYPE II, ADULT-ONSET

COBALAMIN F DISEASE (cblF)

COBALAMIN MALABSORPTION

CONGENITAL ALVEOLAR PROTEINOSIS

CONGENITAL CHLORIDE DIARRHEA

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ib

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ic

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Id

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ie

CONGENITAL DISORDER OF GLYCOSYLATION CDG-If

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ig

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIa

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIb

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IId

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIe

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIh

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIj

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im

CONGENITAL DISORDER OF GLYCOSYLATION CDG-In

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Io

CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GÜNTHER DISEASE)

CONGENITAL GLUTAMINE DEFICIENCY

CONGENITAL LACTIC ACIDOSIS

CONGENITAL SECRETORY DIARRHOEA

CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I

CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II

CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

CRIGLER-NAJJAR SYNDROME TYPE I

CRIGLER-NAJJAR SYNDROME TYPE II

CYTOCHROME-C-OXIDASE DEFICIENCY

D-BIFUNCTIONAL PROTEIN DEFICIENCY

D-GLYCERIC ACIDURA

D-LACTIC ACIDOSIS - AND SHORT BOWEL SYNDROME [DD]

D-LACTIC ACIDOSIS - INBORN ERROR OF METABOLISM?

DEHYDRATION, SEVERE, UNSPECIFIC

DELTA-AMINOLEVULINIC ACID DEHYDRATASE-DEFICIENT PORPHYRIA (ALAD)

DELTA-PYRROLIDINE-5-CARBOXYLATE SYNTHASE DEFICIENCY

DESMOSTEROLOSIS

DIABETES MELLITUS (MODY), NON-INSULIN-DEPENDENT

DIABETES MELLITUS, INSULIN-DEPENDENT

DIABETES, FETAL EFFECTS FROM MATERNAL

DICARBOXYLIC AMINOACIDURIA. GLUTAMATE-ASPARTATE TRANSPORT DEFECT

DIHYDROPYRIMIDINASE (DHPA)

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD)

DIMETHYLGLYCINURIA

DOPA-RESPONSIVE DYSTONIA

DOPAMINE BETA-HYDROXYLASE DEFICIENCY (DßH)

DUCHENNE MUSCULAR DYSTROPHY

EHLERS DANLOS SYNDROME TYPE IX

EPILEPSY, BENIGN NEONATAL

ERYTHROPOIETIC PROTOPORHYRIA

ETHANOLAMINOSIS

ETHYLMALONIC ENCEPHALOPATHY (EPEMA)

EXERCISE-INDUCED-HYPERINSULINSM [EIHI]

FABRY DISEASE

FAMILIAL HYPERINSULINEMIA AND HYPERPROINSULINEAMIA WITH MILD DIABETES

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY

FANCONI-BICKEL SYNDROME

FARBER DISEASE

FEEDING: AMINO ACID FORMULA [DD]

FEEDING: MCT-FORMULAS [DD]

FEEDING: MELAMINE-FORMULA [DD]

FEEDING: NUTRITIONAL DEFICIENCIES RESULTING FROM MILK ALTERNATIVES [DD]

FEEDING: THIAMINE DEFICIENY [DD]

FEEDING: VEGANIAN [DD]

FISH-EYE DISEASE

FOLATE MALABSORPTION

FRIEDREICH ATAXIA

FRUCTOSE INTOLERANCE, HEREDITARY

FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY

FRUCTOSURIA

FUCOSIDOSIS

FUMARIC ACIDURIA

G(M1)-GANGLIOSIDOSIS, TYPE 1. PSEUDO-HURLER-DISEASE

G(M1)-GANGLIOSIDOSIS, TYPE 2. LIPIDOSIS, LATE INFANTILE SYSTEMIC

G(M1)-GANGLIOSIDOSIS, TYPE 3. CHRONIC/ADULT TYPE

G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY

G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE

G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE

GABA TRANSAMINASE DEFICIENCY

GALACTOSEMIA

GALACTOSEMIA II (GALK)

GALACTOSEMIA III

GALACTOSIALIDOSIS

gamma-CYSTATHIONASE DEFICIENCY (CTH)

gamma-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY

GAUCHER DISEASE TYPE I

GAUCHER DISEASE TYPE II

GAUCHER DISEASE TYPE III

GLUCAGON DEFICIENCY

GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME

GLUCOCORTICOID RESISTANCE

GLUCOGLYCINURIA

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

GLUCOSE-GALACTOSE MALABSORPTION

GLUT-1 DEFICIENCY SYNDROME

GLUTARIC ACIDURIA I

GLUTARIC ACIDURIA II

GLUTARIC ACIDURIA TYPE III

GLUTATHIONE SYNTHETASE DEFICIENCY

GLYCEROL INTOLERANCE SYNDROM

GLYCEROL KINASE DEFICIENCY

GLYCINE N-METHYLTRANSFERASE DEFICIENCY

GLYCOGEN SYNTHETASE DEFICIENCY

GLYCOGENOSIS, TYPE IA. VON GIERKE DISEASE

GLYCOGENOSIS, TYPE IB

GLYCOGENOSIS, TYPE IC

GLYCOGENOSIS, TYPE II. ADULT ONSET

GLYCOGENOSIS, TYPE II. INFANTILE ONSET. POMPE DISEASE

GLYCOGENOSIS, TYPE II. JUVENILE ONSET

GLYCOGENOSIS, TYPE IIB WITHOUT alpha-GLUCOSIDASE DEFICIENCY

GLYCOGENOSIS, TYPE III. CORI DISEASE, DEBRANCHER GLYCOGENOSIS

GLYCOGENOSIS, TYPE IV. AMYLOPECTINOSIS, ANDERSON DISEASE

GLYCOGENOSIS, TYPE IXA

GLYCOGENOSIS, TYPE IXB

GLYCOGENOSIS, TYPE IXC

GLYCOGENOSIS, TYPE V. McARDLE DISEASE

GLYCOGENOSIS, TYPE VI. HERS DISEASE

GLYCOGENOSIS, TYPE VII. TARUI DISEASE

GLYCOGENOSIS, TYPE VIII

GOUT

HARTNUP DISEASE

HAWKINSINURIA

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1

HEPATOERYTHROPOIETIC PROPHYRIA (HEP)

HEREDITARY COPROPORPHYRIA (HCP)

HISTIDINEMIA

HISTIDINURIA

HOMOCARNOSINOSIS

HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY

HOMOCYSTINURIA, CblE TYPE OF

HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE

HUMAN GROWTH HORMONE DEFICIENCY

HYDROPS FETALIS, NON IMMUNE

HYDROXYKYNURENINURIA

HYDROXYLYSINURIA

HYDROXYPROLINEMIA

HYPER BETA-ALANINEMIA

HYPER-IgD SYNDROME

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

HYPERCHOLESTEROLEMIA, FAMILIAL

HYPERCYSTINURIA

HYPERDIBASIC AMINOACIDURIA I

HYPEREKPLEXIA

HYPERGLYCINEMIA, NON-KETOTIC

HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

HYPERKYNURENINURIA

HYPERLYSINEMIA I, FAMILIAL

HYPERLYSINEMIA II OR SACCHAROPINURIA

HYPERLYSINURIA

HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA)

HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA [HHH-SYNDROME]

HYPERPHENYLALANIEMIA DUE TO GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY

HYPERPHENYLALANINEMIA DUE TO 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY (PTPS)

HYPERPHENYLALANINEMIA DUE TO DHPR-DEFICIENCY

HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE

HYPERPHOSPHATASIA

HYPERPIPECOLATEMIA

HYPERPROLINEMIA, TYPE I

HYPERPROLINEMIA, TYPE II

HYPERTRIGLYCERIDEMIA

HYPERVALINEMIA

HYPERZINCAEMIA AND HYPERCALPROTECTINAEMIA

HYPOADRENOCORTICISM, FAMILIAL

HYPOGLYCEMIA, FAMILIAL NEONATAL

HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA

HYPOPHOSPHATASIA

HYPOTHYROIDISM, CONGENITAL

IMINOGLYCINURIA

INFANTILE REFSUM'S DISEASE

INFECTIONS OF THE NEWBORN (TORCH) [DD]

INTOXICATION ACETAMINOPHEN [DD]

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

ISOVALERIC ACIDEMIA

JOUBERT SYNDROME

KETOSIS, UNSPECIFIC [DD]

KETOTIC HYPOGLYCEMIA

KRABBE DISEASE

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

LACTASE DEFICIENCY

LACTASE DEFICIENCY, CONGENITAL

LACTOSE INTOLERANCE

LEBER'S HEREDITARY OPTIC NEUROPATHY, LHON

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

LEIGH`S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY, SNE

LESCH-NYHAN SYNDROME

LETHAL INFANTILE CARDIOMYOPATHY: X-LINKED CARDIOSKELETAL MYOPATHY (BARTH SYNDROME)

LETHAL INFANTILE MITOCHONDRIAL DISEASE (LIMD)

LEUKOTRIENE C4-SYNTHESIS DEFICIENCY

LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)

LIVER DISEASE, LIVER FAILURE, UNSPECIFIC

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD)

LONG-CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF

LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD)

LYSINURIC PROTEIN INTOLERANCE (LPI)

MALONYL-COA DECARBOXYLASE DEFICIENCY

MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHELOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY

MAPLE SYRUP URINE DISEASE

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD)

MENKES SYNDROME

METABOLIC ENCEPHALOPATHY (EPEMA)

METACHROMATIC LEUKODISTROPHIES

METHIONINE ADENOSYL TRANSFERASE DEFICIENCY

METHIONINE MALABSORPTION

METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

METHYLMALONIC ACIDURIA (MMA)

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE

METHYLMALONIC ACIDURIA, ATYPICAL

METHYLMALONIC ACIDURIA, cblA TYPE

METHYLMALONIC ACIDURIA, cblB TYPE

METHYLMALONIC ACIDURIA, ISOLATED, BENIGN (BACTERIAL OVERGROWTH?)

MEVALONIC ACIDURIA

MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX II DEFICIENCY

MITOCHONDRIAL DNA DEPLETION SYNDROME

MITOCHONDRIAL ENCEPHALOMYOPATHTHY WITH ELEVANTED METHYLMALONIC ACID, SUCLA2

MITOCHONDRIAL-ENCEPHALOPATHY-LACTIC ACIDOSIS-STROKE (MELAS)

MOLYBDENIUM CO-FACTOR DEFICIENCY

MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)

MUCOLIPIDOSIS II

MUCOLIPIDOSIS III

MUCOLIPIDOSIS IV

MUCOPOLYSACCHARIDOSIS I-H. HURLER SYNDROME

MUCOPOLYSACCHARIDOSIS I-S. SCHEIE SYNDROME

MUCOPOLYSACCHARIDOSIS II. HUNTER SYNDROME

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO A SYNDROME

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO B SYNDROME

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO C SYNDROME

MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO D SYNDROME

MUCOPOLYSACCHARIDOSIS IV. MORQUIO A SYNDROME

MUCOPOLYSACCHARIDOSIS IV. MORQUIO B SYNDROME

MUCOPOLYSACCHARIDOSIS IX

MUCOPOLYSACCHARIDOSIS VI. MAROTEAUX-LAMY SYNDROME

MUCOPOLYSACCHARIDOSIS VII. SLY SYNDROME

MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM

MULTIPLE SULFATASE DEFICIENCY (MSD)

MYOADENYLATE DEAMINASE DEFICIENCY

MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)

MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT

N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY

NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY

NARP SYNDROME

NEONATAL DIABETES MELLITUS, ENTEROPATHY, THROMBOCYTOPENIA AND ENDOCRINOPATHY

NEONATAL HEMOCHROMATOSIS

NEONATAL INTRAHEPATIC CHOLESTASIS

NEUROBLASTOMA

NEURONAL CEROID LIPOFUSCINOSIS. KUF'S DISEASE. BATTEN DISEASE. JANSKY-BIELSCHOWSKY. SPIELMEYER-VOGT. HALTIA-SANTAVUORI

NEWBORNS, PREMATURE INFANTS, TRANSIENT IMMATURITY OF TRANSPORT SYSTEMS OR ENZYMES

NIEMANN-PICK DISEASE TYPE A

NIEMANN-PICK DISEASE TYPE B

NIEMANN-PICK DISEASE TYPE C

NUCLEOTIDE DEPLETION SYNDROME

OCULOCEREBRORENAL SYNDROME OF LOWE

ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTC)

OROTIC ACIDURIA, HEREDITARY

P450 OXIREDUCTASE DEFICIENCY

PATENT DUCTUS VENOSUS

PEARSON SYNDROM

PELIZAEUS MERZBACHER DISEASE

PENDRED SYNDROME (PDS)

PENTOSURIA. ESSENTIAL BENIGN PENTOSURIA

PEROXISOMAL DISORDERS, NEW TYPE, LIVER

PERSISTANT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY, PHHI

PHENYLKETONURIA (PKU)

PHENYLKETONURIA, FETAL EFFECTS FROM MATERNAL (MPKU)

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1 (PEPCK1)

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 2 (PEPCK2)

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY - NEW DISORDER?

PHOSPHOSERINE PHOSPHATASE DEFICIENCY

PORPHYRIA CUTANEA TARDA

PRIMARY HYPEROXALURIA I, PH1

PRIMARY HYPEROXALURIA II, PH2

PRIMARY HYPOMAGNESEMIA

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

PROLIDASE DEFICIENCY

PROPIONIC ACIDEMIA

PSEUDO ZELLWEGER -> D-BIFUNCTIONAL PROTEIN DEFICIENCY

PSEUDONEONATAL ADRENOLEUKODYSTROPHY

PURINE NUCLEOSIDE PHOSPHORYLASE DIFICIENCY

PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY

PYRIDOXINE DEPENDENCY WITH SEIZURES

PYRUVATE CARBOXYLASE DEFICIENCY

PYRUVATE DEHYDROGENASE DEFICIENCY (E1)

PYRUVATE DEHYDROGENASE DEFICIENCY (E2)

PYRUVATE DEHYDROGENASE DEFICIENCY (E3)

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

PYRUVATE KINASE DEFICIENCY

REFSUM DISEASE

RENAL FANCONI SYNDROME

RENAL GLYCOSURIA

RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I

RENAL TUBULAR ACIDOSIS, PROXIMAL, RTA TYPE II

RESPIRATORY CHAIN DEFICIENCIES

RESPIRATORY DISTRESS SYNDROME, HYALINE MEMBRANE DISEASE [DD]

RETT SYNDROME

REYE SYNDROME

REYE SYNDROME LIKE MANIFESTATIONS

RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY

S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

SEPIAPTERIN REDUCTASE DEFICIENCY

SEPSIS, NEONATAL [DD]

SERINE DEFIENCY SYNDROME - NEW DISEASE?

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD)

SHORT-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD)

SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

SIALIC ACID STORAGE DISEASE, INFANTILE TYPE

SIALIDOSIS TYPE I

SIALIDOSIS TYPE II

SMITH-LEMLI-OPITZ SYNDROME

SOTOS SYNDROME

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY

SUCRASE-ISOMALTASE DEFICIENCY

SULFITE OXIDASE DEFICIENCY

TANGIER DISEASE

TRANSALDOLASE DEFICIENCY

TRANSCOBALAMIN II DEFICIENCY

TRANSIENT NEONATAL DIABETES MELLITUS

TRIFUNCTIONAL PROTEIN DEFICIENCY

TRIHYDROXYCOPROSTANIC ACIDEMIA

TRIMETHYLAMINURIA

TRIOSEPHOSPHATE ISOMERASE

TRYPTOPHANURIA

TYROSINE HYDROXYLASE DEFICIENCY

TYROSINEMIA I

TYROSINEMIA II

TYROSINEMIA III

TYROSINEMIA, TRANSIENT, OF THE NEWBORN

UREIDOPROPIONASE DEFICIENCY

VALPROATE THERAPY: ANTICONVULASANT HYPERSENSITIVITY SYNDROME VALPROATE ASSOCIATED HEPATOTOXICITY

VARIEGATE PORPHYRIA

VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD)

VITAMIN B(12) MALABSORPTION. ANEMIA, PERNICOUS, JUVENILE. COBALAMIN MALABSORPTION

VITAMIN E DEFICIENCY (AVED)

WILSON DISEASE

WOLCOTT-RALLISON SYNDROME

WOLFRAM SYNDROME, DIDMOAD

WOLMAN DISEASE

X-LINKED CREATINE-TRANSPORTER DEFECT

XANTHINURIA TYPE I

XANTHINURIA TYPE II

ZELLWEGER SYNDROME