Inborn vitamin metabolic disorder

MONDO:0005528

An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.

Also known as: inborn error of vitamin metabolic process, inborn vitamin metabolic process disorder, rare inborn error of vitamin metabolic process, vitamin metabolic disorder

18 clinical trials for this condition and its sub-types, 0 tagged with Inborn vitamin metabolic disorder itself.

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Where it sits in the disease tree

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Part of

↑ Inborn errors of metabolism (2231) ↑ Vitamin deficiency disorder (135)

Sub-types of Inborn vitamin metabolic disorder

Inborn disorder of cobalamin metabolism and transport 1 trial · 3 incl. sub-types
9 sub-types
- Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
- Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
- Methylmalonic aciduria and/or homocystinuria, cblD type 0 trials · 2 incl. sub-types Sub-types →
- Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types Sub-types →
- Hereditary intrinsic factor deficiency 1 trial Sub-types →
- Transcobalamin II deficiency 1 trial
- Imerslund-Grasbeck syndrome 0 trials Sub-types →
- Methylmalonic acidemia due to transcobalamin receptor defect 0 trials
- Transcobalamin I deficiency 0 trials
Disorders of vitamin D metabolism 0 trials · 3 incl. sub-types
1 sub-type
- Hypocalcemic rickets 0 trials · 3 incl. sub-types Sub-types →
Cerebral folate deficiency 1 trial
Familial isolated deficiency of vitamin E 1 trial
Neurodegenerative syndrome due to cerebral folate transport deficiency 1 trial

Most studied deeper sub-types

Methylmalonic aciduria and homocystinuria type cblC (3) Vitamin D hydroxylation-deficient rickets, type 1B (3) Methylcobalamin deficiency type cblE (2) Methylcobalamin deficiency type cblG (2) Methylmalonic aciduria and homocystinuria type cblD (2) Methylmalonic aciduria, cblA type (2) Methylmalonic acidemia with homocystinuria, type cblJ (1) Methylmalonic aciduria and homocystinuria type cblF (1) Methylmalonic aciduria, cblB type (1) Homocystinuria-megaloblastic anemia cblD type (0) Imerslund-Grasbeck syndrome type 1 (0) Imerslund-Grasbeck syndrome type 2 (0) Intrinsic factor and r binder, combined congenital deficiency of (0) Methylcobalamin deficiency type cblDv1 (0) Methylmalonic acidemia with homocystinuria, type cblX (0) Methylmalonic aciduria and homocystinuria, cb1L type (0) Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (0) Vitamin D-dependent rickets, type 1 (0) Vitamin D-dependent rickets, type 1A (0) Vitamin D-dependent rickets, type 2 (0)

Including sub-types (18) Tagged with Inborn vitamin metabolic disorder (0)

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