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Metabolic Disorders
An overview of disorders affecting metabolism, covering inherited and acquired causes, associated genes, symptoms, diagnostic methods, treatments and health impacts.
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An overview of disorders affecting metabolism, covering inherited and acquired causes, associated genes, symptoms, diagnostic methods, treatments and health impacts.
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110records
17columns
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Columns
| # | TextID | TextDisorder Name | TextCategory | TextPrevalence | TextInheritance Pattern | TextAffected Gene(s) | LocationChromosome Location | TextKey Symptoms | TextTypical Age of Onset | TextDiagnosis Methods | TextAvailable Treatments | TextOrphan Drug Designation | TextICD-10 Code | NumberOMIM Number | TextAffected Pathway/System | TextDisease Severity | TextLife Expectancy Impact |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 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) |
| 02 | 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) |
| 03 | 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 |
| 04 | 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) |
| 05 | 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 |
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