Stanford Health Library

Nutritional & Metabolic Diseases

Use these links to jump directly to your topic of interest in Nutritional & Metabolic Diseases:

Nutrition: General Nutrition | Dietary Recommendations | Dietary Supplements | Caffeine | Carbohydrates | Fats | Fiber | Food Additives | Functional Foods | Minerals | Protein | Sugars and Sweeteners | Vitamins | Acid-Base Balance | Water Balance

Nutritional Disease: Malnutrition | Obesity

Metabolic Disease: General Metabolic Disease | Specific Diseases: A-C, D-G, H-L, M-P, R-Z

Metabolic Diseases (M - P)

(Jump to: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z )

Maple Syrup Urine Disease
MSUD: An Overview:MSUD Family Support Group
Dietary Resources:MSUD Family Support Group
Parents' Guide to MSUD:California Dept of Health Services [PDF]
Maple Syrup Urine Disease:STAR-G Project
Maple Syrup Urine Disease:Genetics Home Reference, NLM
Maple Syrup Urine Disease:GeneReviews

Metabolic Muscle Disease
Metabolic Muscle Disease Overview
Facts About Metabolic Diseases of Muscle:Muscular Dystrophy Association
Index to Specific Metabolic Muscle Diseases
Acid Maltase Deficiency (GSD II, Pompe Disease)
Carnitine Deficiency
Carnitine Palmityl Transferase Deficiency
Debrancher Enzyme Deficiency (GSD III, Cori or Forbes Disease)
Lactate Dehydrogenase Deficiency (GSD XI)
Myoadenylate Deaminase Deficiency
Phosphofructokinase Deficiency ( GSD VII, Tarui Disease)
Phosphoglycerate Kinase Deficiency (GSD IX)
Phosphoglycerate Mutase Deficiency (GSD X)
Phosphorylase Deficiency (GSD V, McArdle Disease)

Metabolic Syndrome
Metabolic Syndrome:NHLBI
Metabolic Syndrome:MedlinePlus
See also Endocrine System, Pre-Diabetes

Mitochondrial Disease
See Mitochondrial Disease

See Mucolipidosis & Mucopolysaccharidosis

See Mucolipidosis & Mucopolysaccharidosis

Myoadenylate Deaminase Deficiency
Myoadenylate Deaminase Deficiency:Muscular Dystrophy Association
Adenosine Monophosphate Deaminase Deficiency:Orphanet

Niemann-Pick Disease
General Information
Niemann-Pick Disease:NINDS
Disease Overview:National Niemann-Pick Disease Foundation
Niemann-Pick Disease:Jewish Genetic Diseases
About Niemann-Pick Type C:Ara Parseghian Medical Research Foundation
Niemann-Pick Disease:Genetics Home Reference, NLM
Acid Sphingomyelinase Deficiency (Types A and B):GeneReviews
Niemann-Pick Disease Type C:GeneReviews

Nonketotic Hyperglycinemia
Glycine Encephalopathy:Genetics Home Reference, NLM
Glycine Encephalopathy:GeneReviews

Organic Acidemia
See Organic Acidemia

Pediatric Neurotransmitter Diseases
General Information
What are PNDs?:Pediatric Neurotransmitter Disease Association (PND)
What are Neurotransmitters?:PND
First Symposium on Pediatric Neurotransmitter Diseases:NINDS (2002)
AADC: Aromatic L-Amino Acid Decarboxylase Deficiency
What is AADC?:PND
Aromatic L-Amino Acid Decarboxylase Deficiency:Genetics Home Reference, NLM
GTPCH: Guanosine Triphosphate Cyclohydrolase I Deficiency
What is Guanosine Triphosphate Cyclohydrolase I Deficiency?:PND
SR: Sepiapterin Reductase Deficiency
Sepiapterin Reductase Deficiency:Brain, A Journal of Neurology
SSADH: Succinic Semialdehyde Dehydrogenase Deficiency
What is SSADH?:PND
Succinic Semialdehyde Dehydrogenase Deficiency:Genetics Home Reference, NLM
Succinic Semialdehyde Dehydrogenase Deficiency:GeneReviews
TH: Tyrosine Hydroxylase Deficiency
What is Tyrosine Hydroxylase Deficiency?:PND
Tyrosine Hydroxylase Deficiency:GeneReviews

General Information
PKU:March of Dimes
Parents' Guide to PKU:California Dept of Health Services [PDF]
Women with PKU:California Dept of Health Services [PDF]
PKU, Pregnancy and You:California Dept of Health Services [PDF]
Phenylketonuria:STAR-G Project
Diet Information
What is the Diet for PKU?:University of Washington
Phenylketonuria Survival Kit:Adult Metabolic Transition Project [for Young Adults]
Phenylketonuria:Genetics Home Reference, NLM
Tetrahydrobiopterin Deficiency:Genetics Home Reference, NLM
Phenylalanine Hydroxylase Deficiency:GeneReviews

General Information
About Porphyria:American Porphyria Foundation
Diet & Nutrition:American Porphyria Foundation
Drugs Safety in Acute Porphyria:American Porphyria Foundation
Porphyria:Genetics Home Reference, NLM
Acute Porphyrias (Affecting the Nervous System)
Acute Intermittent Porphyria (AIP):American Porphyria Foundation
Acute Intermittent Porphyria:GeneReviews
ALAD Porphyria (ADP):American Porphyria Foundation
Cutaneous Porphyrias (Affecting the Skin)
Congenital Erythropoietic Porphyria (CEP):American Porphyria Foundation
Erythropoietic Protoporphyria (EPP):American Porphyria Foundation
Hepatoerythropoietic Porphyria (HEP):American Porphyria Foundation
Hereditary Coproporphyria (HCP):American Porphyria Foundation
Porphyria Cutanea Tarda (PCT):American Porphyria Foundation
Variegate Porphyria (VP):American Porphyria Foundation

Hutchinson-Gilford Progeria
Progeria (Hutchinson-Gilford):Madisons Foundation
About Progeria:Progeria Research Foundation
Hutchinson-Gilford Progeria Syndrome:Genetics Home Reference, NLM
Hutchinson-Gilford Progeria Syndrome:GeneReviews
Werner Syndrome
Werner Syndrome:NORD
FAQ:International Registry of Werner Syndrome
Cancer.Net Guide to Werner Syndrome:ASCO
Werner Syndrome:Genetics Home Reference, NLM
Werner Syndrome:GeneReviews

Pyruvate Metabolism
Pyruvate Carboxylase Deficiency
Pyruvate Carboxylase Deficiency:Genetics Home Reference, NLM
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency:Madisons Foundation

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