To report a case of classic galactosemia that presented with a rare ocular finding, Peters' anomaly. A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. [ncbi.nlm.nih.gov]

• Pathologist

  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]

• Failure to Thrive

  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]

• Persistent Vomiting

  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]

• Purpura

  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

  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]

• Suggestibility

  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]

• Cryptorchidism

  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]

• Dysarthria

  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]

• Dysmetria

  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]

• Vocal Tremor

  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]

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]

• Glycosuria

  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]

• White Matter Lesions

  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]

There is a need for evidence-based recommendations to better standardize treatment for this disorder. [ncbi.nlm.nih.gov]

Treatment is dietary elimination of galactose. Physical prognosis is good with treatment, but cognitive and performance parameters are often subnormal. Galactose is present in dairy products, fruits, and vegetables. [merckmanuals.com]

Prompt treatment is needed to prevent serious health problems and intellectual disabilities. Babies with galactosemia who do not start treatment shortly after birth may have permanent effects. [newbornscreening.info]

Despite decades of research, the pathophysiology of these long-term complications remains obscure, hindering prognosis and attempts at improved intervention. [ncbi.nlm.nih.gov]

[…] are strictly avoided the prognosis is for a normal life Without optimal treatment, the child remains physically stunted and mentally retarded many also have cataracts and rickets most female patients have ovarian failure Please rate topic. [medbullets.com]

While the long-term prognosis may be variable, prenatal and especially newborn screening are key in identifying those affected and promptly administrating a proper treatment. [haasegen564s17.weebly.com]

[…] tissues and organs, leading to the characteristic features of Galactosemia Please find comprehensive information on Galactosemia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

Physical prognosis is good with treatment, but cognitive and performance parameters are often subnormal. Galactose is present in dairy products, fruits, and vegetables. Autosomal recessive enzyme deficiencies cause 3 clinical syndromes. [merckmanuals.com]

The percentage of subjects with BMD-Z CONCLUSIONS: Bone density in adults with galactosemia is low, indicating the potential for increased fracture risk, the etiology of which appears to be multifactorial. [ncbi.nlm.nih.gov]

Perhaps a more plausible approach would be to conduct an epidemiologic investigation to locate a substantial number of adults 20–40 years of age who had DG detected at birth but whose galactose intake had never been restricted. [clinchem.aaccjnls.org]

Epidemiology Galactosaemia (galactosemia in USA literature) is an autosomal recessive inherited condition. [ 2 ] The incidence of classical galactosaemia in white Americans is around 1 in 47,000. [ 4 ] Presentation [ 2, 3, 5 ] This may be rather variable [patient.info]

Epidemiology Frequency United States The incidence of galactosemia is approximately 1 case per 40,000-60,000 persons. [2] International Incidence widely varies (ie, 1 case in 70,000 people in the UK but 1 case in 16,476 people in Ireland [2, 3] ). [emedicine.medscape.com]

EPIDEMIOLOGY The incidence of classic galactosemia is about 1 per 30 000 live births for Caucasians. In other populations the incidence rate differs. [flipper.diff.org]

Despite decades of research, the mechanisms that underlie pathophysiology in classic galactosemia remain unclear. [ncbi.nlm.nih.gov]

Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity. [ncbi.nlm.nih.gov]

How can it be prevented? Galactosemia is not preventable, but further damage is often preventable by removing galactose from the diet. [drgreene.com]