Table 1 Endocrine manifestations of inborn errors of metabolism in adults
From: Endocrine manifestations related to inherited metabolic diseases in adults
IEM General classification | IEM associated with endocrine manifestations and most important mechanism | ENDOCRINE MANIFESTATIONS | |||||
|---|---|---|---|---|---|---|---|
| Â | Â | Diabetes | Dysthyroidism | Hypopara- thyroidism | Adrenal failure | Hypogonadism | Hypopituitarism |
INTOXICATION Metal intoxication Haemochromatosis Aceruleoplasminemia Wilson's Sugar intolerances Galactosaemia Most organic acidurias | Haemochromatosis Iron storage | Diabetes 10% | < 1% | < 1% | < 1% | Hypogonadotropic 5-10% | < 1% except for acquired iron overload and hypogonadism |
| Â | Aceruloplasminemia Iron storage | Diabetes | Â | Â | Â | Â | rare |
| Â | Wilson's disease Copper storage | Â | Â | Hypoparathyroidism rare | Â | Â | Â |
| Â | Galactosaemia Galactose metabolites | Â | Â | Â | Â | Hypergonadotropic in female | Short stature |
| Â | Organic aciduria Organic acids | Possible ketoacidosis pancreatitis | Â | Â | Â | Â | Â |
ENERGY DEFECT Mitochondrial disorders: Respiratory chain disorders Fatty acid oxidation defects | Respiratory chain defect Deficient energy production | Diabetes | All types of thyroid dysfunction | Hypoparathyroidism rare | Subclinical adrenal failure | Hypogonadotropic | Hypopituitarism Short stature 30 to 50% |
| Â | LCHAD Deficient energy production | Â | Â | Hypo- parathyroidism | Â | Â | Â |
Cytoplasmic energy defects Disorders of glycogen metabolism | Glycogenosis Glycogen storage (type I, III) | Diabetes | Thyroid dysfunction (type Ib) | Â | Â | Mixed or undetemined PCOS (type I) | Â |
COMPLEX MOLECULES Peroxisomal disorders | X-linked adreno-leukodystrophy Perrault syndrome VLCFA accumulation | Â | Â | Â | Adrenal failure | Mixed or undetemined (mainly hypergonadotropic) | Â |
Lysosomal disorders | Fabry disease Globoside storage in lysosomes | Â | Subclinical hypothyroidism | Â | Subclinical adrenal failure | Infertility | Â |
| Â | Cystinosis Cystine in lysosomes | Diabetes | Hypothyroidism 75% | Â | Â | Hypergonadotropic | Short stature 30 to 50% |
Disorders of intracellular trafficking and processing such as Congenital disorders of glycosylation Inborn errors of cholesterol synthesis. | CDG I Abnormal glycosylated proteins | Â | Congenital hypothyroidism | Â | Â | Mixed or undetermined mainly hypergonadotropic | Â |
| Â | Multisystemic triglyceride storage disease Triglyceride storage in endoplasmic reticulum | Â | Thyroid dystrophy | Â | Â | Â | Â |
| Â | Type 1 hyperoxaluria Oxalate | Â | Hypothyroidism | Â | Â | Â | Advanced bone age |
| Â | Type B Niemann-Pick disease Sphingolipid storage in lysosomes | Â | Â | Â | Partial rare | Â | Short stature |
TRANSPORTER DEFECT | Rogers syndrome: Thiamine-sensitive megaloblastic anaemia Defective ATP production in ß cells | Diabetes |  |  |  |  |  |
| Â | MCT8 deficiency Defective T3 transport in neurons | Â | High blood T3 | Â | Â | Â | Â |
|  | Alström syndrome | Diabetes | Hypothyroidism |  |  | Hyper- and hypogonadotropic (men) PCOS in women | Rare hypopituitarism Initial advanced bone age |
| Â | Selenoprotein deficiency disorder | Â | Low T3-High T4 | Â | Â | Oligospermia | Short stature |