In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. [wwww.unboundmedicine.com]

Patients with the infantile phenotype presents with (congenital) microcephaly, intractable seizures and severe psychomotor retardation. [treatable-id.org]

This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

• Multiple Congenital Anomalies

  Abstract Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures [wwww.unboundmedicine.com]

  Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as [pesquisa.bvsalud.org]

  congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. [paper.medlive.cn]

  Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) Multiple Lentigines syndrome (formerly called LEOPARD syndrome). [babygene.co.il]

  congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple sulfatase deficiency Multiple system atrophy Multiple system atrophy, cerebellar [se-atlas.de]

• Feeding Difficulties

  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]

  difficulties, and vomiting [6]. [graphyonline.com]

  Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding [se-atlas.de]

  The presentation with hypotonia, lethargy, feeding difficulties, and recurrent apnea may progress from seizures to coma and death. [hindawi.com]

• Episodic Weakness

  Weakness Mild Proximal 2nd wind phenomenon Laboratory Serum CK: Mildly high at rest; 10x to 20x after exercise EMG: Myopathic Exercise test: Lactate rise normal; Ammonia rise 4x normal Muscle biopsy Subsarcolemmal & Sarcoplasmic glycogen accumulation [neuromuscular.wustl.edu]

• Small Head

  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]

  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]

• Hyperlaxity

  In addition, he had generalised hyperlaxity of large and small joints and striae rubra on his abdomen and upper legs. His cranial MRI revealed no abnormalities. [link.springer.com]

  […] dystrophy due to LMNA mutation Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1B Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with hyperlaxity [se-atlas.de]

• Psychomotor Retardation

  Patients with the infantile phenotype presents with (congenital) microcephaly, intractable seizures and severe psychomotor retardation. [treatable-id.org]

  Abstract Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures [wwww.unboundmedicine.com]

  Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as [pesquisa.bvsalud.org]

  Get Update Overview Phosphoglycerate dehydrogenase deficiency is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by {3:Jaeken et al., 1996}). [diseaseinfosearch.org]

• 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]

  The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. [nature.com]

  quadriplegia cerebral palsy 1 GNS mucopolysaccharidosis type IIID ( MPS IIID or Sanfilippo D) GPHN molybdenum cofactor deficiency; autosomal dominant early infantile epileptic encephalopathy HEXA hexosaminidase A ( HEXA ) deficiency, also known as Tay-Sachs [invitae.com]

  quadriplegia syndrome Congenital insensitivity to pain with hyperhidrosis Congenital intrauterine infection-like syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital lethal myopathy, Compton-North type Congenital microcephaly-severe [se-atlas.de]

• 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]

  The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. [nature.com]

  Woodhouse-Sakati syndrome ( WSS ) DDC aromatic L-amino acid decarboxylase deficiency FA2H hereditary spastic paraplegia 35 FTL Neurodegeneration Brain Iron Accumulation 3 (NBIA3); hereditary hyperferritinemia-cataract syndrome; L-ferritin deficiency GAD1 spastic quadriplegia [invitae.com]

  Congenital fibrosis of extraocular muscles Congenital heart defect-round face-developmental delay syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic quadriplegia [se-atlas.de]

• Learning Difficulties

  He visits a secondary school for children with learning difficulties and is actively involved in sports. At the time of diagnosis he was 16 years old and demonstrated hyperactive behaviour and mild developmental delay with an IQ of 49. [link.springer.com]

  Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain. 2013; 136(Pt 10):3085-95. [invitae.com]

  difficulties syndrome Pure hereditary spastic paraplegia Pure or complex X-linked spastic paraplegia Pure or complex autosomal dominant spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex hereditary spastic paraplegia [se-atlas.de]

• Drop Attacks

  Without early treatment, seizures may progress to tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks; or drop attacks, which are sudden episodes [ghr.nlm.nih.gov]

• Tingling

  Only one case of the adult form has been reported; signs and symptoms began in mid-adulthood and included mild intellectual disability; difficulty coordinating movements (ataxia); and numbness, tingling, and pain in the arms and legs (sensory neuropathy [ghr.nlm.nih.gov]

Because of congenital cataracts and mild mental retardation, a metabolic workup was performed to search for inborn errors of metabolism causing peripheral neuropathies.5 Amino acid chromatography showed low serine levels in plasma (0.35 mg/dL [reference [jamanetwork.com]

• Multifocal Epileptic Activity

  EEG recordings showed several seizure types, including hypsarithmia and multifocal epileptic activity (de Koning et al. 2002 ). Cranial MRI scans showed a striking absence of white matter volume and hypomyelination (de Koning et al. 2000 ). [link.springer.com]

• 3 Hz Spikes

  At the age of nine years he presented with absence seizures (complex typical absences) and his EEG recording showed bilateral synchronous spike-wave complexes, which were enhanced after hyperventilation with typical 3 Hz spike wave complexes. [link.springer.com]

The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. [wwww.unboundmedicine.com]

The values of CSF and plasma serine normalised during treatment. His CSF serine rose from 9 to 29 μmol/L after 4 months of treatment. Developmental testing showed no progress in IQ score (IQ 50). [link.springer.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies. [books.google.com]

Prognosis Severity varies, but myopathic syndrome is usually slowly progressive. [mda.org.au]

Prognosis rognosis : despite medical therapy neurodevelopmental delay especially with late onset seizure particularly in expressive language delay. arly diagnosis and effective treatment will improve the outcome. 44. [slideshare.net]

Vitamin B 12 given for late-onset forms of MMA due to defects of adenosylcobalamin metabolism leads to a sustained decrease of toxic metabolites and a favorable developmental prognosis. [neupsykey.com]

Early Myoclonic Encephalopathy (EME) is one of the most severe, drug-resistant epilepsy with poor prognosis with onset within the neonatal age mostly occurring in newborns with IEMs. [graphyonline.com]

Etiology : Biotinidase gene mutation localized at chromosome 3p25. eurological manifestation: hypotonia, lethargy, seizures. allmark: skin rash and alopecia. reatment: 5-20 mg/day. 58. [slideshare.net]

Although 40-50% of them are secondary to hypoxicischemic encephalopathy (HIE), other less frequent etiologies must be taken into account in the diagnostic work-up including infections, cortical malformations (readily identifiable through routine testing [graphyonline.com]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

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]

Vasudevan C, Levene M (2013) Epidemiology and aetiology of neonatal seizures. Semin Fetal Neonatal Med 18: 185-191. [graphyonline.com]

Disease Explained: 3-phosphoglycerate dehydrogenase deficiency is an inherited condition that prevents the body from synthesizing the amino acid serine. [nxgenmdx.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. [thieme-connect.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.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]

There is a very strict window-of-opportunity to prevent developmental delay in patients with infantile and juvenile onset of phenotypes. [content.iospress.com]