To validate the questionnaire and determine its accuracy in detecting DVD, we analyzed questionnaire responses for 21 patients by testing them independently and directly for DVD through a speech pathologist blinded to the patients' genotype. [ncbi.nlm.nih.gov]

A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. [ncbi.nlm.nih.gov]

The classic form is caused by udpglucose-hexose-1-phosphate uridylyltransferase deficiency, and presents in infancy with failure to thrive; vomiting; and intracranial hypertension. [icd10data.com]

This is also known as failure to thrive. Learn more about what failure to thrive means for your child. Multiple complications can appear if galactosemia isn’t diagnosed and treated right away. The buildup of galactose in the blood can be dangerous. [healthline.com]

[…] to thrive, bleeding diathesis, and jaundice, hypoglycemia, hepatocellular damage, and hyperammonemia If untreated in infants can result in Liver damage Sepsis Mental retardation If suspected remove lactose from diet while tests are pending If placed [en.wikibooks.org]

Developmental evaluation, and focus on speech development with appropriate interventions are recommended; Failure to thrive: today is not curable. [flipper.diff.org]

A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. [ncbi.nlm.nih.gov]

Liver dysfunction (n 22, 100%), Escherichia coli sepsis (n 10), purpura fulminans (n 1), hemophagocytosis (n 1), and long QT syndrome (n 1) were also noted. Cataract resolved in 11 (73%) patients with galactose-restricted diet in the first months. [ncbi.nlm.nih.gov]

Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the required blood work, which included both a septic and a metabolic workup. [ncbi.nlm.nih.gov]

The incorporation of galactose into the TCA-insoluble fraction was drastically reduced in the patient compared to controls, suggesting that there may be a deficiency of ovarian galactose-containing glycolipids, glycoproteins and mucopolysaccharides in [ncbi.nlm.nih.gov]

The prevalence of cryptorchidism was higher in men with galactosemia than in the general population [11.6% vs. 1.0% (95%CI: 0.75-1.26; p [ncbi.nlm.nih.gov]

In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic dysarthria, and 3% with mixed CAS-dysarthria. [ncbi.nlm.nih.gov]

Cataracts have been found in 21%, decreased bone density in 24%, tremor in 46%, ataxia in 15%, and dysarthria in 24%. Few patients of either sex have children and all females have premature ovarian insufficiency. [disorders.eyes.arizona.edu]

Speech therapy may be necessary for children with speech apraxia or dysarthria. [rarediseases.org]

childhood apraxia of speech or dysarthria) have been reported [9], [11] – [14] as well as problems with word retrieval, grammar and vocabulary (the latter impairments are related to the planning of a message and not with the verbal output of a message [journals.plos.org]

Abstract In classic galactosemia, long-term neurologic sequelae can include low cognitive functioning and a curious neurologic syndrome with tremors, dysmetria, and ataxia. [ncbi.nlm.nih.gov]

Inability to coordinate voluntary movements (ataxia) Involuntary muscle contractions (tremors) Inaccurate estimation of distance during muscular activity (dysmetria). [childrenshospital.org]

Focal findings such as tremor, ataxia, and dysmetria Ovarian failure- Premature ovarian failure (81%), increased LH/FSH consistent with hypergonadotrophic hypogonadism Cataracts - Sublenticular cataracts (30%), detected after two weeks of age, the result [pedclerk.bsd.uchicago.edu]

Three children, two diagnosed with CAS and one not diagnosed with a motor speech disorder, had vocal tremors. Treatment of voice dysfunction in neurogenic speech disorders is discussed. [ncbi.nlm.nih.gov]

Lab Findings Liver dysfunction- conjugated/unconjugated hyperbilirubinemia, abnormal LFTs, coagulopathy, increased plasma aa (phenylalanine, tyrosine, methionine) Renal tubular dysfunction- metabolic acidosis, galactosuria and glycosuria, albuminuria [pedclerk.bsd.uchicago.edu]

Evoked potentials correlated with severity of presenting symptoms (P .011), age at evoked potential testing (P .029), and presence of focal white-matter lesions on MRI (P .049). [ncbi.nlm.nih.gov]