Patients & Caregivers

The AMDC is committed to helping adults diagnosed with, or suspected of having, genetic disorders that affect their metabolism. The main types of genetic disorders treated at the AMDC are described below.


Congenital Adrenal Hyperplasia

Fatty Acid Oxidation Disorders


Glutaric Academia

Gyrate atrophy


Neurotransmitter diseases

Refsum's disease

Glycogen Storage Disease


Methylmalonic Acidemia


Urea cycle disorder

GTP cyclohydrolase deficiency

Isovaleric acidemia

Mitochondrial disease

Propionic acidemia

Lysosomal Storage Disorders

Fabry disease
Gaucher disease
Metachromatic leukodystrophy
Niemann Pick
Pompe disease

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The Adult Metabolic staff are always there for me and my family...
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The whole department went above and beyond to help me find a diagnosis & it feels like they walk this walk with me & my family
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You guys at the clinic are a huge source of comfort and support. Thanks for being there!
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I found that the clinic was very informative and is staffed by the most helpful group of professionals. They explained what and why things were happening to me, in language that I understood...
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