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2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
2-Methylacetoacetyl CoA Thiolase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-Hydroxyisobutyric Aciduria
5-Oxoprolinase Deficiency
adenylosuccinase lyase deficiency
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aminoacylase 1 Deficiency
argininosuccinic aciduria
aromatic L-amino acid decarboxylase deficiency
ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
arthrogryposis multiplex congenita +
Asparagine Synthetase Deficiency
Ataxia, Deafness, and Cardiomyopathy
Atrial Dilation and Standstill +
autosomal recessive limb-girdle muscular dystrophy type 2D
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Beta-Aminoisobutyric Acid, Urinary Excretion of
beta-ketothiolase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
carboxypeptidase N deficiency
Cardiomyopathy Associated with Myopathy and Sudden Death
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
Carey-Fineman-Ziter syndrome +
cerebral creatine deficiency syndrome +
Chanarin-Dorfman syndrome +
congenital glutamine deficiency
Congenital Myopathy with Neuropathy and Deafness
Congenital Universal Muscular Hypoplasia of Krabbe
Craniomandibular Disorders +
developmental and epileptic encephalopathy 116
Diabetic Cardiomyopathies
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
Ehlers-Danlos syndrome kyphoscoliotic type 2
endocardial fibroelastosis +
eosinophilia-myalgia syndrome
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
extrinsic cardiomyopathy +
Familial Cardiac Lipidosis
familial hypertryptophanemia
familial periodic paralysis +
Fatal Fetal Cardiomyopathy due to Myocardial Calcification
Fingerprint Body Myopathy
GABA aminotransferase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
Gamstorp-Wohlfart syndrome
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glutamate Monosodium Sensitivity
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
Glycinuria with or without Oxalate Urolithiasis
Granulovacuolar Lobular Myopathy with Electrical Myotonia
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
Hyperleucine-Isoleucinemia
Hypertaurinuric Cardiomyopathy
Hypertrophia Musculorum Vera
Ichthyosis, Split Hairs, and Amino Aciduria
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Indolylacroyl Glycinuria with Mental Retardation
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Internal Anal Sphincter Myopathy
intrinsic cardiomyopathy +
Isobutyryl-CoA Dehydrogenase Deficiency
isolated sulfite oxidase deficiency
Kocher-Debre-Semelaigne Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
leucine-sensitive hypoglycemia of infancy
linear skin defects with multiple congenital anomalies 3
Lysine Malabsorption Syndrome
lysinuric protein intolerance
Maleylacetoacetate Isomerase Deficiency
maple syrup urine disease +
Marinesco-Sjogren syndrome
Medial Tibial Stress Syndrome
Mercaptolactate-Cysteine Disulfiduria
Methionine Malabsorption Syndrome
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonyl-CoA Epimerase Deficiency +
Mitochondrial Cardiomyopathy
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 5
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple acyl-CoA dehydrogenase deficiency +
multiple carboxylase deficiency +
Muscular Dystrophy, Cardiac Type
Myocardial Reperfusion Injury
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy due to Malate-Aspartate Shuttle Defect
Myopathy with Lactic Acidosis, Hereditary
N-Acetylaspartate Deficiency
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with spastic paraplegia and microcephaly
nonischemic cardiomyopathy
nuclear type mitochondrial complex I deficiency 20
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
ornithine carbamoyltransferase deficiency
ornithine translocase deficiency
oxoglutarate dehydrogenase deficiency
Pectoralis Muscle, Absence of
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Proximal Myopathy with Focal Depletion of Mitochondria
Singleton Merten Syndrome +
Skeletal Muscle Reperfusion Injury
succinic semialdehyde dehydrogenase deficiency
systemic primary carnitine deficiency disease An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (DO)
Tel Hashomer Camptodactyly Syndrome
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
Treft Sanborn Carey Syndrome
Tryptophanuria with Dwarfism
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Uruguay faciocardiomusculoskeletal syndrome
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
very long chain acyl-CoA dehydrogenase deficiency
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