SYNOPSIS: we present a novel mild phenotype in patients with 3-PGDH deficiency. [ncbi.nlm.nih.gov]

• Feeding Difficulties

  In the younger sister with the classical phenotype, feeding difficulties with recurrent gastro-oesophageal reflux prompted us to treat her temporarily with high-dose serine (1400 mg/kg/day). [ncbi.nlm.nih.gov]

  In addition, the patients were irritable, hypertonic, had feeding difficulties and appeared to be “unhappy” infants. EEG recordings showed several seizure types, including hypsarithmia and multifocal epileptic activity (de Koning et al. 2002). [link.springer.com]

• Small Head

  Onset is in infancy or early childhood, and clinical features include a small head size (microcephaly), severe psychomotor retardation, and seizures. Progressive loss of brain cells leads to brain atrophy and hypomyelination. [sema4genomics.com]

  Individuals with the more severe infantile onset form may have small head size identifiable by ultrasound during pregnancy. They also typically have recurrent seizures and psychomotor delays within the first year of life. [nxgenmdx.com]

  Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). [ghr.nlm.nih.gov]

  Affected infants typically are born with small heads or head sizes that progressively get smaller as the child ages. This is due to loss of brain cells and brain tissue as a result of the lack of serine for brain development. [geneticsalert.com]

  Description Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy [medlineplus.gov]

• Psychomotor Retardation

  Abstract 3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. [ncbi.nlm.nih.gov]

• Seizure

  Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. [ncbi.nlm.nih.gov]

• Spastic Quadriplegia

  Finally, a severe spastic quadriplegia becomes evident during the first years of life. In addition, the patients were irritable, hypertonic, had feeding difficulties and appeared to be “unhappy” infants. [link.springer.com]

• Quadriplegia

  Finally, a severe spastic quadriplegia becomes evident during the first years of life. In addition, the patients were irritable, hypertonic, had feeding difficulties and appeared to be “unhappy” infants. [link.springer.com]

Pre-treatment MRI demonstrated hypomyelination and profound white matter attenuation in all patients. During treatment, a significant increase in white matter volume was found and a progress of myelination in two patients. [ncbi.nlm.nih.gov]

Prognosis: The prognosis for phosphoglycerate dehydrogenase deficiency is generally poor. Certain treatments can assist with seizures, but the other symptoms remain and are somewhat progressive. [nxgenmdx.com]

Conclusion We have shown that a higher rate of PHGDH expression is an independent marker of prognosis in GC. [dovepress.com]

Relevant External Links for PHGDH Genetic Association Database (GAD) PHGDH Human Genome Epidemiology (HuGE) Navigator PHGDH Atlas of Genetics and Cytogenetics in Oncology and Haematology: PHGDH No data available for Genatlas for PHGDH Gene Novel mutations [genecards.org]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.de]

Molecular and Systemic Pathophysiology This enzyme defect (Fig. 1 ). causes decreased concentrations of serine and, to a lesser extent, of glycine in fasting plasma, in cerebrospinal fluid (CSF), and most probably also in brain. [link.springer.com]

Early diagnosis in index cases allows supplementation in serine and prevention of fixed lesions. Prenatal diagnosis and genetic counseling allows prevention of secondary cases. [ncbi.nlm.nih.gov]

Disease Explained: Phosphoglycerate dehydrogenase deficiency is an inherited condition that prevents the body from synthesizing the amino acid serine. [nxgenmdx.com]

The lack of serine likely prevents the production of proteins and neurotransmitters in the brain and impairs the formation of normal cells and myelin. [ghr.nlm.nih.gov]

In similar case, this kind of patients should be treated preventatively with NO-Donors. On the other hand, some APOE genotypes can have a high incidence of MI. [dokumen.tips]