Disease

Also Known as

Madelungs Disease

Benign Symmetrical Lipomatosis 

Maleyacetoacetate Isomerase Deficiency

MAI Deficiency 

Malonyl CoA Decarboxylase Deficiency     

Malonic Aciduria

Mannosidosis (Alpha)

Alpha-Mannosidase B Deficiency

Mannosidosis (Beta)

Beta-Mannosidase Deficiency

Maple Syrup Disease             

MSD

Marfan Syndrome

Contractual Arachnodactyly  

Marinesco Sjogren Syndrome

MSS

Mastocytosis

Mast Cell Disease

McCune Albright Syndrome     

Polyostotic Fibrous Dysplasia

McKusick Kaufman Syndrome

MKKS

Medium Chain 3 Ketoacyl CoA Thiolase Deficiency

MCKAT 

Medium Chain Acyl CoA Dehydrogenase Deficiency       

MCADD

Melorheostosis

Menkes Disease    

Kinky Hair Disease 

Metachromatic Leukodystrophy 

Arylsulphatase A Deficiency 

Hypermethioninaemia

Methionine Synthase Deficiency

N5-Methylhomocysteine Transferase Deficiency  

Methylacyl-CoA Racemase Deficiency (2)

AMACR 

Methyl-Cobalamin Deficiency

Methylcrotonyl CoA Carboxylase Deficiency (3)                             

Methylcrotonyl Glycinuria (3)

Methylenetetrahydrofolate Reductase Deficiency

MTHFR 

Methylglutaconic Aciduria (3) Type 1  

3-Methylglutaconyl-CoA Hydratase Deficiency

Methylglutaconic Aciduria (3) Type 2  

Barth Syndrome

Methylglutaconic Aciduria (3) Type 3  

Methylglutaconic Aciduria (3) Type 4  

Methylmalonic Acidaemia                 

MMA

Methylmalonic Acidaemia and Homocystinuria                           

Cobalamin C Disease Cobalamin D Disease

Methylmalonic Semialdehyde Dehydrogenase Deficiency

Mevalonic Aciduria

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency               

Beta Ketothiolase Deficiency 

Mitochondrial Cytopathy

Mitochondrial Disorders -General

Mitochondrial DNA Depletion Syndrome

Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes

MELAS

Mitochondrial Myopathy       

Mitochondrial Myopathy, Peripheral Neuropathy, Gastrointestinal and Encephalopathy Disease      

MNGIE

Mitochondrial Respiratory Chain Complex – General

Mitochondrial Respiratory Chain Complex I

Mitochondrial Respiratory Chain Complex II

Mitochondrial Respiratory Chain Complex III

Mitochondrial Respiratory Chain Complex IV

Cytochrome C Oxidase Deficiency

Mitochondrial Respiratory Chain Complex V

Miyoshi Myopathy

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Atrophy Syndrome  

Molybdenum Co-factor Deficiency

Sulphite and Xanthine Oxidase Deficiency 

Monoamine Oxidase-A Deficiency

MAO-A Deficiency

Morquio B Disease

Mucopolysaccharidosis IVb 

Mosaicism

Chromosomal Mosaicism 

Muckle Wells Syndrome

MWS 

Mucolipidosis II

I Cell Disease / ML II

Mucolipidosis III

Pseudohurler Polydystrophy /ML III

Mucolipidosis IV

Neuraminidase Deficiency 

Mucopolysaccharidosis - General              

MPS

Mucopolysaccharidosis Type I       

Hurler Disease

Mucopolysaccharidosis Type II      

Hunter Disease

Mucopolysaccharidosis Type III     

Sanfilippo Disease

Mucopolysaccharidosis Type IV    

Morquio Syndrome

Mucopolysaccharidosis Type VI    

Maroteaux–Lamy Disease

Mucopolysaccharidosis Type VII   

Sly Syndrome

Mucopolysaccharidosis Type IX     

Hyaluronidase Deficiency

Mulibrey Nanism Syndrome

Perheentupa Syndrome

Multiple Acyl CoA Dehydrogenase Deficiency                                    

Glutaric Aciduria Type II / GA II

MADD

Multiple Sulphatase Deficiency

Austin Syndrome 

Muscular Dystrophy

MD 

Myasthenia Gravis - Congenital

MG / Erb-Goldflam Syndrome

Myoadenylate Deaminase Deficiency

MAD Deficiency 

Myoclonic Epilepsy and Ragged Red Fibres     

MERRF