Inborn disorder of serine family metabolism

MONDO:0019239

An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.

Also known as: inborn disorder of serine or glycine metabolism, inborn error of serine family amino acid metabolic process, inborn serine family amino acid metabolic process disorder, rare inborn error of serine family amino acid metabolic process, disorder of serine or glycine metabolism

1 clinical trial for this condition and its sub-types, 0 tagged with Inborn disorder of serine family metabolism itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of amino acid and other organic acid metabolism (225)

Sub-types of Inborn disorder of serine family metabolism

Neurometabolic disorder due to serine deficiency 0 trials · 1 incl. sub-types
5 sub-types
- 3-phosphoglycerate dehydrogenase deficiency 1 trial Sub-types →
- PSAT deficiency 0 trials
- PSPH deficiency 0 trials
- Serine biosynthesis pathway deficiency, infantile/juvenile form 0 trials
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 trials
Glycine encephalopathy 0 trials
5 sub-types
- Atypical glycine encephalopathy 0 trials
- Glycine encephalopathy 1 0 trials
- Glycine encephalopathy 2 0 trials
- Infantile glycine encephalopathy 0 trials
- Neonatal glycine encephalopathy 0 trials
Inborn disorder of glycine and serine metabolism 0 trials

Most studied deeper sub-types

Neu-Laxova syndrome (0) Neu-Laxova syndrome 1 (0) Neu-Laxova syndrome 2 (0) Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency (0) PHGDH deficiency (0)

Including sub-types (1) Tagged with Inborn disorder of serine family metabolism (0)

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