North American Mitochondrial Diseases Consortium

AID: aminoglycoside-induced deafness

Alpers syndrome

CoQ deficiency

CPEO: chronic progressive external ophthalmoplegia

DAD: diabetes and deafness

Encephalopathy

Encephalomyopathy

FBSN: familial bilateral striatal necrosis

Hepatocerebral disease

KSS: Kearns-Sayre syndrome

Leigh syndrome

Leukoencephalopathy

LHON: Leber’s hereditary optic neuropathy

MELAS: mitochondrial encephalopathy lactic acidosis with stroke-like episodes

MERRF: Myoclonus epilepsy ragged-red fibers

MILS: maternally inherited Leigh syndrome

MNGIE: Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial DNA depletion syndrome

Multiple deletions of mitochondrial DNA

NARP: Neuropathy, ataxia and retinitis pigmentosa syndrome

Pearson syndrome

SANDO: Sensory ataxia neuropathy dysarthria ophthalmoplegia

Complex I deficiency

Complex II (SDH) deficiency

Complex III deficiency

Complex IV deficiency

Complex V deficiency

Multiple respiratory chain enzyme deficiencies


Porphyria Consortium

Acute intermittent porphyria

Hereditary coproporphyria

Variegate porphyria

Aminolevulinate dehydratase deficiency porphyria

Porphyria cutanea tarda

Hepatoerythropoietic porphyria

Congenital porphyria

Erythropoietic protoporphyria and X-linked protoporphyria


Primary Immune Deficiency Treatment Consortium

Severe combined immunodeficiency (SCID)



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