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Learn About Neu Laxova Syndrome

What is the definition of Neu Laxova Syndrome?
Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during pregnancy (intrauterine growth restriction). At birth, they may be small (low birth weight and short in length) and their facial features are usually different and distinct. The babies may have a small head (microcephaly), sloping forehead, and widely spaced eyes (hypertelorism). Babies with NLS may also have extra fluid (edema) in their hands and feet, brain abnormalities, and rigid, stiff muscles. Other birth defects may affect the baby's arms, legs, skin, genitals, kidneys, and heart. Not every baby with NLS will have every sign or symptom of NLS. Neu Laxova syndrome (NLS) is caused by changess in one of three different genes, PHGDH, PSAT1, PSPH. The genetic changes cause too little L-serine (an amino acid) to be made. There must be a genetic change in both copies of one of these genes, which means NLS is inherited in an autosomal recessive manner. NLS can be diagnosed both prenatally by an ultrasound or after birth. The diagnosis is suspected by signs and symptoms, but may be confirmed by genetic testing (prenatally by chorionic villi sampling (CVS) or amniocentesis; after birth by genetic blood test).
What are the alternative names for Neu Laxova Syndrome?
  • Neu Laxova syndrome
  • 3-phosphoglycerate dehydrogenase deficiency, neonatal form
  • NLS
  • Neu-Laxova syndrome
Who are the top Neu Laxova Syndrome Local Doctors?
Elite in Neu Laxova Syndrome
Medical Genetics | Pediatrics
Elite in Neu Laxova Syndrome
Medical Genetics | Pediatrics
402 N Keene St, Ste 101, 
Columbia, MO 
Languages Spoken:
English

Ayman El-Hattab is a Medical Genetics specialist and a Pediatrics provider in Columbia, Missouri. Dr. El-Hattab is rated as an Elite provider by MediFind in the treatment of Neu Laxova Syndrome. His top areas of expertise are MELAS Syndrome, Neu Laxova Syndrome, Primary Carnitine Deficiency, and Microcephaly.

Philip L. Goolsby
Experienced in Neu Laxova Syndrome
Family Medicine
Experienced in Neu Laxova Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of Neu Laxova Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Neu Laxova Syndrome
Family Medicine
Experienced in Neu Laxova Syndrome
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Neu Laxova Syndrome. His top areas of expertise are Cerebral Palsy, Floating-Harbor Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, and Ruvalcaba Syndrome.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center