Health
Excel
Metabolic Disorders Dataset – Metabolism & Biochemical Conditions
Metabolic Disorders Dataset
The Metabolic Disorders Dataset is a structured medical database containing a comprehensive list of conditions that affect the body’s metabolism and biochemical processes.
Metabolic disorders occur when normal metabolic processes are disrupted, affecting how the body converts food into energy and regulates essential biochemical pathways. These conditions include disorders related to glucose metabolism, lipid metabolism, and enzyme deficiencies.
This dataset provides organised information to support medical research, healthcare analytics, and application development.
Each record includes detailed clinical information such as disease descriptions, affected metabolic pathways or systems, common symptoms, severity levels, and treatment approaches.
The dataset has been cleaned and structured for easy integration into spreadsheets, databases, and analytical tools.
It is ideal for medical researchers, healthcare developers, educators, and data scientists working with metabolic and biochemical health data.
Dataset Contents
The dataset includes fields such as:
- Disease / Condition Name
- Description
- Affected Metabolic Pathway/System
- Common Symptoms
- Severity Level
- Disease Category
- Underlying Cause (Genetic / Acquired)
- Treatment / Management
Example Conditions Included
- Diabetes Mellitus
- Phenylketonuria (PKU)
- Hyperlipidemia
- Metabolic Syndrome
- Glycogen Storage Diseases
- Mitochondrial Disorders
- Galactosemia
- Homocystinuria
- Obesity
- Insulin Resistance
...and many more metabolic conditions.
Data Preview
17 columns
25 rows shown
| ID | Disorder Name | Category | Prevalence | Inheritance Pattern | Affected Gene(s) | Chromosome Location | Key Symptoms | Typical Age of Onset | Diagnosis Methods | Available Treatments | Orphan Drug Designation | ICD-10 Code | OMIM Number | Affected Pathway/System | Disease Severity | Life Expectancy Impact | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Glycogen Storage Disease Type I (von Gierke) | Carbohydrate/Glycogen | 1 per 100,000 | Autosomal recessive | G6PC (Ia), SLC37A4 (Ib) | 17q21.31, 11q23.3 | Severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, doll-like facies, growth failure, neutropenia (Ib) | Infancy (3-6 months) | Glucose, lactate, uric acid, lipids, genetic testing, liver biopsy | Cornstarch therapy, frequent feeding, glucose-rich diet, G-CSF (Ib), liver transplant; gene therapy in trials | Yes | E74.01 | 232200 | Glucose-6-phosphatase | Severe | Reduced (improved with treatment) |
| 2 | 2 | Glycogen Storage Disease Type II (Pompe) | Carbohydrate/Glycogen | 1 per 40,000 | Autosomal recessive | GAA | 17q25.3 | Infantile: hypotonia, cardiomegaly, respiratory failure; late-onset: limb-girdle weakness, respiratory insufficiency | Infancy to adulthood | Acid alpha-glucosidase enzyme assay (DBS), genetic testing, EMG, muscle biopsy | Enzyme replacement therapy (alglucosidase alfa, avalglucosidase alfa), respiratory support | Yes | E74.02 | 232300 | Lysosomal alpha-glucosidase | Severe | Reduced (varies) |
| 3 | 3 | Glycogen Storage Disease Type III (Cori) | Carbohydrate/Glycogen | 1 per 100,000 | Autosomal recessive | AGL | 1p21.2 | Hepatomegaly, hypoglycemia, growth retardation, myopathy (IIIa), cardiomyopathy | Infancy | Enzyme assay, genetic testing, CK, glucagon test | Frequent feeds, cornstarch, high-protein diet, treatment of cardiomyopathy | Yes | E74.03 | 232400 | Glycogen debranching enzyme | Moderate | Variable |
| 4 | 4 | Glycogen Storage Disease Type IV (Andersen) | Carbohydrate/Glycogen | Very rare | Autosomal recessive | GBE1 | 3p12.2 | Progressive liver failure, cirrhosis, hypotonia, cardiomyopathy, neuromuscular forms (APBD) | Infancy | Liver biopsy, enzyme assay, genetic testing | Liver transplantation, supportive care | Yes | E74.09 | 232500 | Glycogen branching enzyme | Severe | Reduced (often fatal in infancy) |
| 5 | 5 | Glycogen Storage Disease Type V (McArdle) | Carbohydrate/Glycogen | 1 per 100,000 | Autosomal recessive | PYGM | 11q13.1 | Exercise intolerance, muscle cramps, myoglobinuria after exertion, second-wind phenomenon | Childhood/adulthood | CK, ischemic forearm test, muscle biopsy, genetic testing | Aerobic conditioning, sucrose pre-exercise, vitamin B6, avoid intense exertion | No | E74.04 | 232600 | Muscle phosphorylase | Moderate | Normal |
| 6 | 6 | Glycogen Storage Disease Type VI (Hers) | Carbohydrate/Glycogen | Rare | Autosomal recessive | PYGL | 14q22.1 | Mild hepatomegaly, hypoglycemia, growth retardation, ketosis | Childhood | Enzyme assay, genetic testing, glucagon test | Cornstarch, frequent feeds, usually mild course | No | E74.09 | 232700 | Liver phosphorylase | Mild | Normal |
| 7 | 7 | Glycogen Storage Disease Type VII (Tarui) | Carbohydrate/Glycogen | Very rare | Autosomal recessive | PFKM | 12q13.11 | Exercise intolerance, hemolytic anemia, hyperuricemia, myoglobinuria, no second wind | Childhood/adulthood | CK, ischemic forearm test, enzyme assay | Activity modification, avoid carbohydrate before exercise | No | E74.09 | 232800 | Phosphofructokinase | Moderate | Variable |
| 8 | 8 | Classic Galactosemia | Carbohydrate/Galactose | 1 per 30,000-60,000 | Autosomal recessive | GALT | 9p13.3 | Vomiting, jaundice, hepatomegaly, cataracts, sepsis (E. coli), failure to thrive, intellectual disability if untreated | Newborn | Newborn screening, GALT enzyme assay, urine reducing substances, genetic testing | Lifelong galactose-free diet (lactose-free formula), calcium and vitamin D | No | E74.21 | 230400 | Galactose-1-phosphate uridyltransferase | Severe | Variable (cognitive issues) |
| 9 | 9 | Galactokinase Deficiency | Carbohydrate/Galactose | 1 per 100,000 | Autosomal recessive | GALK1 | 17q25.1 | Cataracts (often only manifestation), galactosuria | Infancy/childhood | Enzyme assay, urine galactose, genetic testing | Galactose-restricted diet | No | E74.29 | 230200 | Galactokinase | Mild | Normal |
| 10 | 10 | Hereditary Fructose Intolerance | Carbohydrate/Fructose | 1 per 20,000-30,000 | Autosomal recessive | ALDOB | 9q31.1 | Vomiting, hypoglycemia, jaundice, hepatomegaly after fructose ingestion, food aversion to sweets, hepatic/renal failure | Infancy (weaning) | Genetic testing, fructose tolerance test (rare), liver biopsy | Strict fructose/sucrose/sorbitol-free diet | Yes | E74.12 | 229600 | Aldolase B | Severe | Normal with diet |
| 11 | 11 | Pyruvate Dehydrogenase Deficiency | Carbohydrate/Pyruvate | Rare | X-linked dominant (PDHA1) or AR | PDHA1, DLAT, PDHX, others | Xp22.12 | Lactic acidosis, neurodevelopmental delay, hypotonia, seizures, structural brain abnormalities | Neonatal/infancy | Lactate, pyruvate, brain MRI, enzyme assay, genetic testing | Ketogenic diet, thiamine, dichloroacetate (investigational) | Yes | E74.4 | 312170 | Pyruvate dehydrogenase complex | Severe | Reduced |
| 12 | 12 | Pyruvate Carboxylase Deficiency | Carbohydrate/Pyruvate | 1 per 250,000 | Autosomal recessive | PC | 11q13.2 | Severe lactic acidosis, hypoglycemia, hyperammonemia, neurodevelopmental delay, seizures | Neonatal/infancy | Lactate, ketones, ammonia, amino acids, enzyme assay, genetic testing | Biotin, citrate, aspartate, triheptanoin (research) | Yes | E74.4 | 266150 | Pyruvate carboxylase | Severe | Reduced (often fatal) |
| 13 | 13 | Phenylketonuria (PKU) | Amino Acid/Aromatic | 1 per 10,000-15,000 | Autosomal recessive | PAH | 12q23.2 | Intellectual disability if untreated, microcephaly, seizures, eczema, musty body odor, fair complexion | Newborn | Newborn screening (phenylalanine), genetic testing | Lifelong low-phenylalanine diet, sapropterin (BH4), pegvaliase, large neutral amino acids | Yes | E70.0 | 261600 | Phenylalanine hydroxylase | Severe | Normal with treatment |
| 14 | 14 | Tyrosinemia Type I | Amino Acid/Aromatic | 1 per 100,000 | Autosomal recessive | FAH | 15q25.1 | Hepatic failure, cirrhosis, hepatocellular carcinoma, renal tubular dysfunction, neurologic crises, cabbage-like odor | Infancy | Succinylacetone (urine/blood), AFP, tyrosine, methionine, genetic testing | Nitisinone (NTBC), low-tyrosine/phenylalanine diet, liver transplant | Yes | E70.21 | 276700 | Fumarylacetoacetate hydrolase | Severe | Improved with NTBC |
| 15 | 15 | Tyrosinemia Type II (Richner-Hanhart) | Amino Acid/Aromatic | Very rare | Autosomal recessive | TAT | 16q22.2 | Painful palmoplantar hyperkeratosis, dendritic corneal ulcers, intellectual disability | Childhood | Plasma tyrosine, urine tyrosine metabolites, genetic testing | Low-tyrosine/phenylalanine diet | Yes | E70.21 | 276600 | Tyrosine aminotransferase | Moderate | Normal with treatment |
| 16 | 16 | Alkaptonuria | Amino Acid/Aromatic | 1 per 250,000 | Autosomal recessive | HGD | 3q13.33 | Dark urine on standing, ochronosis (blue-black pigmentation), arthritis, cardiac valve disease, kidney stones | Adulthood (urine darkening from infancy) | Urine homogentisic acid, genetic testing | Nitisinone, vitamin C, low-protein diet, joint replacement | Yes | E70.29 | 203500 | Homogentisate 1,2-dioxygenase | Moderate | Slightly reduced |
| 17 | 17 | Maple Syrup Urine Disease (MSUD) | Amino Acid/Branched-Chain | 1 per 185,000 | Autosomal recessive | BCKDHA, BCKDHB, DBT, DLD | 19q13.2, 6q14.1, 1p21.2, 7q31.1 | Maple syrup-smelling urine, encephalopathy, ketoacidosis, seizures, coma, intellectual disability | Newborn | Newborn screening (leucine), plasma amino acids, urine organic acids, genetic testing | Strict BCAA-restricted diet, thiamine, liver transplant, hemodialysis for crises | Yes | E71.0 | 248600 | Branched-chain alpha-ketoacid dehydrogenase | Severe | Reduced if untreated |
| 18 | 18 | Homocystinuria (CBS Deficiency) | Amino Acid/Sulfur | 1 per 200,000-335,000 | Autosomal recessive | CBS | 21q22.3 | Marfanoid habitus, ectopia lentis, intellectual disability, thromboembolism, osteoporosis | Childhood | Plasma homocysteine, methionine, urine homocystine, genetic testing | Pyridoxine (B6), methionine restriction, betaine, folate, B12 | Yes | E72.11 | 236200 | Cystathionine beta-synthase | Severe | Reduced (vascular events) |
| 19 | 19 | Cystathioninuria | Amino Acid/Sulfur | Rare | Autosomal recessive | CTH | 1p31.1 | Often benign, occasional intellectual disability, seizures | Variable | Urine cystathionine, plasma amino acids | Pyridoxine (often), no specific treatment | No | E72.19 | 219500 | Cystathionine gamma-lyase | Mild | Normal |
| 20 | 20 | Nonketotic Hyperglycinemia | Amino Acid/Glycine | 1 per 60,000 | Autosomal recessive | GLDC, AMT, GCSH | 9p24.1, 3p21.31 | Severe neonatal encephalopathy, hypotonia, seizures, apnea, intellectual disability | Neonatal | CSF/plasma glycine ratio, genetic testing, MRI | Sodium benzoate, dextromethorphan, ketogenic diet (limited efficacy) | Yes | E72.51 | 605899 | Glycine cleavage system | Severe | Reduced |
| 21 | 21 | Hyperphenylalaninemia (BH4 deficiency) | Amino Acid/Aromatic | 1-2% of HPA cases | Autosomal recessive | PTS, GCH1, QDPR, PCBD1 | 11q23.1, 14q22.2, 4p15.32, 10q22.1 | Elevated phenylalanine, neurologic deterioration despite Phe restriction, seizures, dystonia | Newborn | Pterins, DHPR activity, BH4 loading test, genetic testing | Sapropterin (BH4), L-DOPA, 5-HTP, low-Phe diet | Yes | E70.1 | 261630 | BH4 cofactor synthesis | Severe | Variable |
| 22 | 22 | Histidinemia | Amino Acid/Other | 1 per 12,000 | Autosomal recessive | HAL | 12q23.1 | Usually benign, rare speech delay or learning issues | Newborn (screening) | Plasma histidine, urine imidazoles, enzyme assay | Usually no treatment needed | No | E70.41 | 235800 | Histidase | Mild | Normal |
| 23 | 23 | Hartnup Disease | Amino Acid/Transport | 1 per 14,000-30,000 | Autosomal recessive | SLC6A19 | 5p15.33 | Pellagra-like rash, cerebellar ataxia, photosensitivity, neuropsychiatric symptoms | Childhood | Urine neutral amino acids, plasma amino acids | Nicotinamide, high-protein diet, sun protection | No | E72.02 | 234500 | Neutral amino acid transport | Mild | Normal |
| 24 | 24 | Cystinuria | Amino Acid/Transport | 1 per 7,000 | Autosomal recessive | SLC3A1, SLC7A9 | 2p21, 19q13.11 | Recurrent kidney stones (cystine), hematuria, urinary obstruction, UTIs | Childhood/young adults | Urine cystine (24-hr), stone analysis, genetic testing | High fluid intake, urinary alkalinization (potassium citrate), tiopronin, D-penicillamine, lithotripsy | Yes | E72.01 | 220100 | Cystine/dibasic amino acid transport | Moderate | Slightly reduced |
| 25 | 25 | Argininosuccinic Aciduria (overlap UCD) | Amino Acid/Urea Cycle | 1 per 70,000 | Autosomal recessive | ASL | 7q11.21 | Hyperammonemia, lethargy, vomiting, trichorrhexis nodosa, hepatomegaly, intellectual disability | Neonatal/infancy | Plasma ammonia, amino acids (citrulline, ASA), genetic testing | Low-protein diet, arginine, sodium benzoate, sodium phenylbutyrate, liver transplant | Yes | E72.22 | 207900 | Argininosuccinate lyase | Severe | Variable |
- Full dataset access
- Excel format
- Instant download